998:
982:
1101:
syndrome having an affected child is 50% for each pregnancy; (2) Parents who have affected children, but who were unaware of their own genetic conditions, are now being diagnosed as genetic testing become available; (3) Molecular genetics techniques such as FISH (fluorescence in situ hybridization) have limitations and have not been able to detect all 22q11.2 deletions. Newer technologies have been able to detect these atypical deletions.
713:
6727:
52:
6737:
1114:
22, some recommend that the name "22q11.2 deletion syndrome (22q11.2DS)" be used. Some experts support changing the name of both DiGeorge and velocardiofacial syndromes to CATCH-22. The
International 22q11.2 Foundation, through its "Same Name Campaign", advocates for the name 22q11.2 deletion syndrome.
3186:
Choy KW, Kwok YK, Cheng YK, Wong KM, Wong HK, Leung KO, Suen KW, Adler K, Wang CC, Lau TK, Schermer MJ, Lao TT, Leung TY (September 2014). "Diagnostic accuracy of the BACs-on-Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series".
1033:
at 37 points on chromosome 22q found it to be as reliable as FISH in detecting normal 22q11.2 deletions. It was also able to detect smaller atypical deletions that are easily missed using FISH. These factors, along with the lower expense and easier testing mean that this MLPA probe could replace FISH
1005:
Diagnosis of DiGeorge syndrome can be difficult due to the number of potential symptoms and the variation in phenotypes between individuals. It is suspected in patients with one or more signs of the deletion. In these cases a diagnosis of 22q11.2DS is confirmed by observation of a deletion of part of
1113:
ICD-10 2015 version mentions DiGeorge syndrome using two codes: D82.1 (Di George syndrome) and Q93.81 (Velo-cardio-facial syndrome). The ICD-11 Beta Draft discusses the syndrome under “LD50.P1 CATCH 22 phenotype". However, since this syndrome is caused by the deletion of a small piece of chromosome
621:
Current research demonstrates a unique profile of speech and language impairments is associated with 22q11.2DS. Children often perform lower on speech and language evaluations in comparison to their nonverbal IQ scores. Common problems include hypernasality, language delays, and speech sound errors.
590:
Children with DiGeorge syndrome have a specific profile in neuropsychological tests. They usually have a below-borderline normal IQ, with most individuals having higher scores in the verbal than the nonverbal domains. Some are able to attend mainstream schools, while others are home-schooled or in
1092:
DiGeorge syndrome is estimated to affect between one in 2000 and one in 4000 live births. This estimate is based on major birth defects and may be an underestimate, because some individuals with the deletion have few symptoms and may not have been formally diagnosed. It is one of the most common
1073:
is often required for congenital heart abnormalities. Hypoparathyroidism causing hypocalcaemia often requires lifelong vitamin D and calcium supplements. Specialty clinics that provide multi-system care allow for individuals with DiGeorge syndrome to be evaluated for all of their health needs and
1044:
Fewer than 5% of individuals with symptoms of DiGeorge syndrome have normal routine cytogenetic studies and negative FISH testing. In these cases, atypical deletions are the cause. Some cases of 22q11.2 deletion syndrome have defects in other chromosomes, notably a deletion in chromosome region
732:
and 8% have a deletion of 1.5Mb. The number of genes affected by the deletion has been cited as approximately 30 to 50. Very rarely, patients with somewhat similar clinical features may have deletions on the short arm of chromosome 10. The disorder has an autosomal dominant inheritance pattern.
1109:
The signs and symptoms of DiGeorge syndrome are so varied that different groupings of its features were once regarded as separate conditions. These original classifications included velocardiofacial syndrome, Shprintzen syndrome, DiGeorge sequence/syndrome, Sedlackova syndrome, and conotruncal
299:
The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure
1100:
The number of people affected has been expected to rise because of multiple reasons: (1) surgical and medical advances, an increasing number of people are surviving heart defects associated with the syndrome. These individuals are in turn having children. The chances of a person with DiGeorge
663:
is often severely delayed for preschool-age children. In some recent studies, children had a severely limited vocabulary or were still not verbal at 2–3 years of age. School-age children do make progress with expressive language as they mature, but many continue to have delays and demonstrate
346:
Affected individuals may also have other kinds of birth defects including kidney abnormalities and significant feeding difficulties as babies. Gastrointestinal issues are also very common in this patient population. Digestive motility issues may result in constipation. Disorders such as
703:
and the use of compensatory articulation strategies is present due to the structural abnormalities of the palate. The speech impairments exhibited by this population are more severe during the younger ages and show a trend of gradual improvement as the child matures.
283:
approach with efforts to improve the function of the potentially many organ systems involved. Long-term outcomes depend on the symptoms present and the severity of the heart and immune system problems. With treatment, life expectancy may be normal.
699:, nasal substitutions, pharyngeal fricatives, linguapalatal sibilants, reduced pressure on consonant sounds, or a combination of these symptoms. Of these errors, glottal stops have the highest frequency of occurrence. It is reasoned that a limited
4452:
736:
A French study of 749 people diagnosed between 1995 and 2013 found that the mutation was inherited in 15% of patients, of which 85.5% was from the mother. Other studies have found inheritance rates of 6–10%. The majority cases are a result of a
744:
The exact mechanism that causes all of the associated features of the syndrome is unknown. Of the 30–50 genes in the deleted region, a number have been identified as possibly playing a role in the development of some of the signs and symptoms.
652:(VPI). Hearing loss can also contribute to increased hypernasality because children with hearing impairments can have difficulty self monitoring their oral speech output. The treatment options available for VPI include prosthesis and surgery.
2793:
Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A (March 2001). "Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice".
3794:
3779:
3764:
2621:
Bartsch O, Nemecková M, Kocárek E, Wagner A, Puchmajerová A, Poppe M, Ounap K, Goetz P (February 2003). "DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion".
997:
1281:
Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D (January 1978). "A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome".
674:
errors are commonly present in children with DiGeorge syndrome. These errors include a limited phonemic (speech sound) inventory and the use of compensatory articulation strategies resulting in reduced intelligibility. The
893:
The gene coding for C22orf25 is located on chromosome 22 and the location q11.21, so it is often associated with 22q11.2 deletion syndrome. But with TANGO2 disorder being autosomal recessive, will not occur in all cases.
1053:
No cure is known for DiGeorge syndrome. Certain individual features are treatable using standard treatments. The key is to identify each of the associated features and manage each using the best available treatments.
6316:
6771:
2173:
D'Antonio LL, Scherer NJ, Miller LL, Kalbfleisch JH, Bartley JA (2001). "Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS".
6352:
4639:
1146:
44:
DiGeorge anomaly, velocardiofacial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome (CTAF), Takao syndrome, Sedlackova syndrome, Cayler cardiofacial syndrome, CATCH22, 22q11.2 deletion
370:. Studies provide various rates of 22q11.2DS in schizophrenia, ranging from 0.5 to 2.0% and averaging about 1.0%, compared with the overall estimated 0.025% risk of the 22q11.2DS in the general population.
2714:
Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE (1999). "A common molecular basis for rearrangement disorders on chromosome 22q11".
5402:
5064:
1940:
Swillen A, Vogels A, Devriendt K, Fryns JP (2000). "Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications".
1057:
For example, in children, it is important that the immune problems are identified early, as special precautions are required regarding blood transfusion and immunization with live vaccines.
1710:
Debbané M, Glaser B, David MK, Feinstein C, Eliez S (2006). "Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications".
4118:
6332:
4632:
1026:(qPCR), both of which can detect atypical deletions in 22q11.2 that are not detected by FISH. qPCR analysis is also quicker than FISH, which can have a turn around of 3 to 14 days.
1611:
Restivo A, Sarkozy A, Digilio MC, Dallapiccola B, Marino B (February 2006). "22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system".
1041:(array-CGH) uses a large number of probes embossed in a chip to screen the entire genome for deletions or duplications. It can be used in post and pre-natal diagnosis of 22q11.2.
6445:
6342:
3409:
668:, which is the ability to comprehend, retain, or process spoken language, can also be impaired, although not usually with the same severity as expressive language impairments.
5360:
2072:"Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications"
949:-associated PD. None of the genes affected in individuals with 22q11.2DS have previously been linked to PD but there are a number that are likely candidates. These include
6801:
6373:
814:
might have a role in the regulation of FGF18 expression, ensuring that the differentiation of these cells in the pharyngeal region is correct. Therefore, dysfunction of
4625:
4585:
5057:
4243:
3423:
1019:
3659:
Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J (August 2011).
417:
Individuals can have many possible features, ranging in number of associated features and from the mild to the very serious. Symptoms shown to be common include:
6347:
695:, and glottal stops. Sound made in the middle of the mouth are completely absent. Compensatory articulation errors made by this population of children include:
400:(Hypertelorism, short down slanting palpebral fissures, tubular nose with anteverted nostrils, short philtrum, carp mouth, mandibular hypoplasia, cleft palate)
6766:
2425:
Persson C, Niklasson L, Oskarsdóttir S, Johansson S, Jönsson R, Söderpalm E (2006). "Language skills in 5-8-year-old children with 22q11 deletion syndrome".
6781:
6185:
5929:
5050:
1156:
1078:
in
Toronto, Canada, which provides children with 22q11 deletion syndrome ongoing support, medical care and information from a team of health care workers.
741:(new to the family) deletion. This is because the 22q11 region has a structure that makes it highly prone to rearrangements during sperm or egg formation.
1326:
6536:
4857:
4705:
4559:
3574:
1259:
4894:
4251:
728:
deletion of part of the long arm (q) of chromosome 22, region 1, band 1, sub-band 2 (22q11.2). Approximately 80-90% of patients have a deletion of 3
4256:
3909:
776:
family of genes which have an important role in tissue and organ formation during embryonic development and it may have a role in the regulation of
519:
483:
6571:
6435:
6337:
5353:
4442:
4082:
1075:
1038:
1802:
Horowitz A, Shifman S, Rivlin N, Pisanté A, Darvasi A (2005). "A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients".
3637:
2304:
Eliez S, Palacio-Espasa F, Spira A (2000). "Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes".
272:, meaning that only one affected chromosome is needed for the condition to occur. Diagnosis is suspected based on the symptoms and confirmed by
6776:
6678:
5145:
5021:
4523:
4427:
3716:
3604:
1023:
3354:"Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants"
582:. Therefore, there is a marked variability in clinical expression between the different patients. This often makes early diagnosis difficult.
6761:
5217:
4723:
4580:
1226:
1201:
5288:
6404:
4077:
2569:
Maynard TM, Meechan DW, Dudevoir ML, Gopalakrishna D, Peters AZ, Heindel CC, Sugimoto TJ, Wu Y, Lieberman JA, Lamantia AS (November 2008).
848:
for correct formation and remodelling of the aortic arches has been extensively studied in various mouse models suggesting the key role of
4533:
3328:
1977:"The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome"
4386:
2240:
2223:
2024:
Zinkstok J, van
Amelsvoort T (2005). "Neuropsychological profile and neuroimaging in patients with 22Q11.2 Deletion Syndrome: a review".
1593:
DiGeorge, A (1968). "Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism".
1579:
142:
6647:
6042:
5026:
4273:
3813:
2464:
1432:
3401:
6791:
6541:
6440:
6394:
5346:
1007:
659:
deficits) at the onset of language development are also part of the speech and language profile associated with the 22q11.2 deletion.
594:
Adults with DiGeorge syndrome are a specifically high-risk group for developing schizophrenia. About 30% have at least one episode of
4266:
1519:
Kobrynski LJ, Sullivan KE (October 2007). "Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes".
664:
difficulty when presented with language tasks such as verbally recalling narratives and producing longer and more complex sentences.
6740:
6032:
4351:
4123:
3306:
3290:
1573:
154:
4961:
1037:
Genetic testing using BACs-on-Beads has been successful in detecting deletions consistent with 22q11.2DS during prenatal testing.
6239:
5615:
5320:
4878:
4789:
4103:
4014:
6642:
6178:
6014:
5957:
5547:
1975:
Muldoon M, Ousley OY, Kobrynski LJ, Patel S, Oster ME, Fernandez-Carriba S, Cubells JF, Coleman K, Pearce BD (September 2015).
629:
6556:
6500:
6008:
5947:
5885:
5233:
5031:
4901:
4773:
4554:
2961:"Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations"
1953:
6607:
6368:
6244:
5502:
4528:
4437:
4376:
4198:
2265:"Profiles of communication disorder in children with velocardiofacial syndrome: comparison to children with Down syndrome"
434:
5531:
4768:
3864:
591:
special classes. The severity of hypocalcemia early in childhood is associated with autism-like behavioral difficulties.
6409:
5951:
5943:
5899:
5591:
5466:
5444:
3137:"BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis"
2839:"Thalamic miR-338-3p mediates auditory thalamocortical disruption and its late onset in models of 22q11.2 microdeletion"
1124:
301:
2909:"Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy"
6414:
6389:
6218:
6142:
6130:
5510:
5397:
5315:
5207:
4881:
4733:
4700:
4518:
4288:
4153:
454:
5587:
5583:
993:(ARSA) in Spectrum Green as control. Absence of the orange signal indicates deletion of the TUPLE 1 locus at 22q11.2.
377:
to describe 22q11.2DS, with the 22 signifying the chromosomal abnormality is found on the 22nd chromosome, as below:
985:
Result of FISH analysis using LSI probe (TUPLE 1) from DiGeorge/velocardiofacial syndrome critical region. TUPLE 1 (
287:
DiGeorge syndrome occurs in about 1 in 4,000 people. The syndrome was first described in 1968 by
American physician
6806:
6786:
6683:
6475:
6311:
6223:
6171:
5889:
4396:
4361:
4341:
4293:
969:, which is involved in regulating dopamine levels, and microRNA miR-185, which is thought to target known PD locus
5652:
4847:
6796:
6399:
6254:
6056:
6018:
5817:
4867:
4762:
4757:
4752:
4747:
4742:
4677:
4475:
4316:
4208:
4072:
3010:"Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report"
1455:
649:
438:
202:
82:
2187:
6576:
6551:
5506:
4916:
4664:
4549:
4366:
3824:
2750:
Jerome LA, Papaioannou VE (March 2001). "DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1".
2665:
Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, Missirian C, Le
Caignec C, et al. (June 2016).
1318:
1134:
1129:
777:
422:
206:
3914:
1074:
allow for careful monitoring of the patients. An example of this type of system is the 22q
Deletion Clinic at
1006:
the long arm (q) of chromosome 22, region 1, band 1, sub-band 2. Genetic analysis is normally performed using
4617:
2121:"Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data"
1061:
can be used to address absence of the thymus in the rare, so-called "complete" DiGeorge syndrome. Bacterial
886:) also known as chromosome 22 open reading frame 25 (C22orf25) is a protein that in humans is encoded by the
6690:
6637:
6632:
6561:
6072:
6064:
6050:
6036:
5994:
5915:
5627:
5016:
5001:
4997:
4495:
4480:
4467:
4422:
4321:
4283:
4233:
4130:
3925:
3566:
3424:"Doctors said the boy was suffering from teenage psychosis. What he really had was a rare genetic condition"
3135:
GarcĂa-Herrero S, Campos-Galindo I, MartĂnez-Conejero JA, Serra V, Olmo I, Lara C, SimĂłn C, Rubio C (2014).
1251:
1094:
430:
382:
210:
93:
1001:
Brain computer tomography cuts of the person, demonstrating basal ganglia and periventricular calcification
784:. The neural crest forms many of the structures affected in DiGeorge syndrome, including the skull bones,
628:
occurs when air escapes through the nose during the production of oral speech sounds, resulting in reduced
6673:
6612:
6566:
5518:
5369:
5212:
4490:
4485:
4432:
4417:
4057:
4047:
2390:
Solot CB, Knightly C, Handler SD (2000). "Communication disorders in the 22Q11.2 microdeletion syndrome".
1456:"Newly Diagnosed Hypoparathyroidism as the Initial Presentation of DiGeorge Syndrome in a 26-Year-Old Man"
1058:
942:
789:
692:
688:
684:
680:
671:
660:
606:
321:
137:
3539:
Daily DK, Ardinger HH, Holmes GE (February 2000). "Identification and evaluation of mental retardation".
6264:
6146:
5273:
4991:
4971:
4692:
4052:
3936:
3232:"Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases"
1030:
906:
579:
571:
475:
331:. DiGeorge syndrome may be first spotted when an affected newborn has heart defects or convulsions from
6126:
6122:
679:
inventory typically produced consists of sounds made in the front or back of the oral cavity such as:
6597:
6581:
6546:
6480:
5873:
5798:
5737:
5543:
5310:
5300:
5011:
4715:
4007:
3629:
3492:"Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden"
534:
234:
3708:
3596:
981:
764:
gene (T-box transcription factor TBX1) is thought to be the cause of some of the symptoms observed.
6730:
6249:
6046:
5859:
5493:
5293:
5172:
4457:
4042:
3798:
2667:"A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH"
656:
390:
366:
Microdeletions in chromosomal region 22q11.2 are associated with a 20 to 30-fold increased risk of
305:
230:
106:
632:. This is a common characteristic in the speech and language profile because 69% of children have
6663:
6485:
6213:
6150:
6138:
6134:
6098:
6093:
6028:
5642:
5422:
5305:
5278:
5268:
5179:
5095:
4863:
4738:
4356:
4163:
3212:
2819:
2775:
2647:
2329:
2119:
Mok KY, Sheerin U, Simón-Sánchez J, Salaka A, Chester L, Escott-Price V, et al. (May 2016).
2049:
1922:
1827:
1735:
1692:
1636:
1544:
1501:
1166:
1161:
926:
781:
755:
717:
700:
665:
507:
386:
352:
336:
269:
76:
2887:"TANGO2 transport and golgi organization 2 homolog [Homo sapiens (human)] - Gene - NCBI"
2571:"Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes"
238:
5042:
6617:
6520:
6470:
6281:
6112:
5729:
5648:
5571:
5559:
5100:
5090:
5073:
4823:
4808:
4652:
4575:
4500:
4401:
4326:
4173:
4113:
4067:
4062:
3981:
3960:
3835:
3773:
3690:
3548:
3521:
3472:
3383:
3286:
3263:
3204:
3168:
3117:
3041:
2990:
2938:
2868:
2811:
2767:
2732:
2696:
2639:
2600:
2551:
2502:
2442:
2407:
2369:
2321:
2286:
2245:
2199:
2191:
2150:
2101:
2041:
2006:
1957:
1914:
1876:
1819:
1784:
1727:
1684:
1628:
1569:
1563:
1536:
1493:
1475:
1379:
1291:
1222:
1197:
1151:
825:
leads to several defects similar to those seen in humans, mainly affecting development of the
799:
645:
479:
280:
164:
146:
124:
64:
1424:
1348:
Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J (October 1993).
6710:
6705:
6602:
6515:
6259:
6107:
6103:
6000:
5877:
5845:
5476:
5327:
5283:
5258:
5245:
5162:
5152:
5122:
4930:
4911:
4842:
4656:
4648:
4606:
4391:
4308:
4298:
4261:
4193:
4168:
4158:
4087:
4037:
3680:
3672:
3511:
3503:
3462:
3454:
3373:
3365:
3253:
3243:
3196:
3158:
3148:
3107:
3099:
3086:
Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS (March 2008).
3068:
3031:
3021:
2980:
2972:
2928:
2920:
2858:
2850:
2803:
2759:
2724:
2686:
2678:
2631:
2590:
2582:
2541:
2533:
2492:
2434:
2399:
2361:
2313:
2276:
2235:
2183:
2140:
2132:
2091:
2083:
2033:
1996:
1988:
1949:
1906:
1866:
1858:
1811:
1774:
1766:
1719:
1674:
1620:
1528:
1483:
1467:
1369:
1361:
539:
397:
356:
253:
69:
17:
6419:
6117:
5706:
5222:
5202:
4953:
4601:
4371:
4331:
4203:
4000:
3352:
Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, et al. (May 2007).
3230:
Park SJ, Jung EH, Ryu RS, Kang HW, Ko JM, Kim HJ, Cheon CK, Hwang SH, Kang HY (May 2011).
1171:
1070:
990:
910:
288:
273:
218:
130:
98:
3573:. The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome.
1350:"Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11"
3441:
Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, et al. (August 2015).
1897:
Lindsay EA (November 2001). "Chromosomal microdeletions: dissecting del22q11 syndrome".
1319:"Chromosome 22q11.2 Deletion Syndrome - NORD (National Organization for Rare Disorders)"
1110:
anomaly face syndrome. All are now understood to be presentations of a single syndrome.
712:
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5791:
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5112:
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4728:
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3258:
3231:
3163:
3136:
3112:
3087:
3036:
3009:
2985:
2960:
2933:
2908:
2863:
2838:
2691:
2666:
2595:
2570:
2546:
2521:
2145:
2120:
2096:
2071:
2001:
1976:
1871:
1846:
1779:
1754:
1624:
1488:
1374:
1349:
930:
922:
918:
902:
826:
788:
of the face and palate, the outflow tract of the heart, and the thymus and parathyroid
765:
610:
528:
466:
348:
2907:
Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, KĂĽpper C, et al. (2016).
2837:
Chun S, Du F, Westmoreland JJ, Han SB, Wang YD, Eddins D, et al. (January 2017).
2403:
2352:
Robin NH, Shprintzen RJ (2005). "Defining the clinical spectrum of deletion 22q11.2".
2136:
1532:
6755:
6505:
6271:
5986:
5786:
5747:
5742:
5670:
5656:
5632:
5620:
5608:
5596:
5576:
5481:
5459:
5454:
5432:
5184:
4381:
4346:
3216:
2281:
2264:
1505:
841:
625:
605:
Individuals with DiGeorge syndrome also have a higher risk of developing early onset
599:
549:
515:
470:
426:
367:
313:
249:
222:
198:
2823:
2779:
2651:
2333:
2053:
1926:
1831:
1696:
1663:"Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)"
1640:
1548:
6622:
6490:
6450:
5781:
5688:
5684:
5564:
5552:
5536:
5524:
5514:
5417:
5253:
5167:
4982:
4794:
2959:
Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, et al. (2016).
1739:
914:
725:
696:
641:
559:
495:
488:
462:
458:
340:
332:
226:
214:
102:
86:
3875:
2224:"Early speech and language development in children with velocardiofacial syndrome"
2070:
Butcher NJ, Kiehl TR, Hazrati LN, Chow EW, Rogaeva E, Lang AE, Bassett AS (2013).
609:(PD). Diagnosis of Parkinson's can be delayed by up to 10 years due to the use of
51:
3829:
3369:
2537:
2087:
1815:
1723:
279:
Although there is no cure, treatment can improve symptoms. This often includes a
6700:
5803:
5774:
5769:
5666:
5157:
4213:
4188:
4183:
4148:
3898:
3892:
3676:
3072:
2365:
1770:
1679:
1662:
1066:
637:
360:
325:
3881:
2976:
2924:
1471:
1014:(FISH), which is able to detect microdeletions that standard karyotyping (e.g.
6695:
6510:
6208:
6194:
5923:
5919:
5725:
5471:
5449:
5439:
5263:
5194:
4987:
4948:
4228:
4178:
3973:
3952:
3903:
3887:
3878:
3840:
3788:
2586:
2438:
2037:
1992:
1081:
1062:
785:
511:
2195:
1753:
Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R (2003).
1479:
852:
for cardiovascular development and the phenotypes seen in DiGeorge syndrome.
6495:
5764:
5720:
5412:
5407:
4223:
3870:
3507:
3200:
3059:
Miller, Kimberley A. (2008). "FISH Diagnosis of 22q11.2 Deletion
Syndrome".
3026:
2241:
10.1002/(SICI)1096-8628(19991215)88:6<714::AID-AJMG24>3.0.CO;2-B
1015:
768:
in this gene have also been observed in individuals with DiGeorge syndrome.
729:
595:
309:
171:
5338:
3985:
3964:
3694:
3661:"Practical guidelines for managing patients with 22q11.2 deletion syndrome"
3552:
3525:
3476:
3387:
3267:
3248:
3208:
3172:
3121:
3045:
2994:
2942:
2886:
2872:
2815:
2771:
2736:
2728:
2700:
2643:
2604:
2555:
2506:
2446:
2411:
2373:
2325:
2290:
2249:
2203:
2154:
2105:
2045:
2010:
1961:
1918:
1880:
1823:
1788:
1731:
1688:
1632:
1540:
1497:
3153:
2682:
2317:
1862:
1383:
1365:
1084:(methyltyrosine) is used as an off-label treatment for DiGeorge syndrome.
6627:
5880:
5830:
5826:
5698:
5377:
5140:
4938:
4673:
4278:
4218:
3931:
3458:
3443:"Practical guidelines for managing adults with 22q11.2 deletion syndrome"
2635:
2497:
2484:
1295:
676:
565:
555:
444:
265:
261:
116:
6306:
5933:
5716:
5389:
5227:
5117:
3103:
869:
633:
450:
404:
150:
3756:
5132:
5082:
4813:
4682:
4023:
3859:
3783:
3768:
2807:
1910:
1029:
A 2008 study of a new high-definition MLPA probe developed to detect
883:
830:
543:
328:
317:
2854:
2522:"Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome"
1954:
10.1002/1096-8628(200022)97:2<128::AID-AJMG4>3.0.CO;2-Z
655:
Difficulties acquiring vocabulary and formulating spoken language (
640:
is such that it does not stop the flow of air from going up to the
6353:
6022:
5961:
5937:
5867:
2763:
1147:
List of radiographic findings associated with cutaneous conditions
1140:
996:
980:
960:
955:
946:
864:
836:
The abnormalities seen in the great arteries of mice deficient of
818:
may be responsible for some of the symptoms in DiGeorge syndrome.
794:
773:
711:
501:
245:
3088:"Detailed analysis of 22q11.2 with a high density MLPA probe set"
2468:
1192:
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
6068:
6060:
6004:
5990:
5965:
5893:
5863:
5853:
3920:
3818:
3329:"DiGeorge (22q11.2 deletion) syndrome: Management and prognosis"
986:
965:
941:
22q11.2DS has been associated with a higher risk of early onset
760:
59:
A child with characteristic facial features of DiGeorge syndrome
6167:
5342:
5046:
4621:
3996:
3951:
McDonald-McGinn DM, Emanuel BS, Zackai EH (December 16, 2005).
840:
are a consequence of abnormal formation and remodelling of the
244:
DiGeorge syndrome is typically due to the deletion of 30 to 40
5849:
3624:
3622:
312:. Infections are common in children due to problems with the
6163:
465:; characteristic facial features (present in the majority of
197:, is a syndrome caused by a microdeletion on the long arm of
868:
gene has been linked to improper regulation of the microRNA
6772:
Noninfectious immunodeficiency-related cutaneous conditions
2188:
10.1597/1545-1569(2001)038<0455:AOSCIC>2.0.CO;2
1217:
James, William D.; Berger, Timothy G.; et al. (2006).
3402:"Clinical and Metabolic Genetics- The 22q Deletion Clinic"
2520:
Tang KL, Antshel KM, Fremont WP, Kates WR (October 2015).
447:(bluish skin due to poor circulation of oxygen-rich blood)
3992:
3736:
291:. In late 1981, the underlying genetics were determined.
4119:
Pervasive developmental disorder not otherwise specified
1755:"The schizophrenia phenotype in 22q11 deletion syndrome"
913:
volume density. These mutations results in early onset
953:, which is important for biogenesis of brain microRNA,
373:
Salient features can be summarized using the mnemonic
6343:
Convention on the Rights of
Persons with Disabilities
3976:. In Pagon RA, Bird TD, Dolan CR, Stephens K (eds.).
3955:. In Pagon RA, Bird TD, Dolan CR, Stephens K (eds.).
308:, mild differences in facial features, and recurrent
3746:
3281:
Mupanemunda, Richard H.; Watkinson, Michael (2004).
821:
Research in mouse models has shown that deletion of
802:, neural crest cell death is seen. Although neither
6656:
6590:
6529:
6463:
6428:
6382:
6361:
6325:
6299:
6292:
6232:
6201:
6086:
5979:
5908:
5838:
5825:
5816:
5715:
5697:
5683:
5492:
5385:
5376:
5244:
5193:
5131:
5081:
4970:
4947:
4929:
4877:
4807:
4782:
4714:
4691:
4672:
4663:
4594:
4568:
4542:
4511:
4466:
4410:
4307:
4242:
4139:
4096:
4030:
3850:
3750:
1256:
Genetic and Rare
Diseases Information Center (GARD)
1219:
Andrews' Diseases of the Skin: clinical Dermatology
636:abnormalities. If the structure of the soft palate
180:
170:
160:
136:
123:
112:
92:
75:
63:
40:
35:
27:
Medical condition caused by chromosomal abnormality
3735:This article incorporates public domain text from
959:, which encodes a protein that interacts with the
201:. While the symptoms can vary, they often include
2222:Scherer NJ, D'Antonio LL, Kalbfleisch JH (1999).
205:, specific facial features, frequent infections,
1661:McDonald-McGinn DM, Sullivan KE (January 2011).
1020:multiplex ligation-dependent probe amplification
3307:"DiGeorge syndrome (22q11.2 deletion syndrome)"
2616:
2614:
2478:
2476:
2065:
2063:
1892:
1890:
1656:
1654:
1652:
1650:
1323:NORD (National Organization for Rare Disorders)
933:that later develops into cognitive impairment.
2954:
2952:
2902:
2900:
2217:
2215:
2213:
363:illnesses are common late-occurring features.
6348:Declaration on the Rights of Disabled Persons
6179:
6108:46,XX testicular disorders of sex development
5354:
5058:
4633:
4008:
3008:Tonelli AR, Kosuri K, Wei S, Chick D (2007).
2263:Scherer NJ, D'Antonio LL, Rodgers JR (2001).
413:Hypocalcemia/hypoparathyroidism early in life
324:that in some patients is due to an absent or
8:
1454:Shah, Anvay; Sinnott, Bridget (2022-02-06).
945:(PD). The neuropathology seen is similar to
882:Transport and golgi organization 2 homolog (
5930:Acute myeloblastic leukemia with maturation
2168:
2166:
2164:
1157:Characteristics of syndromic ASD conditions
989:) probe was labeled in Spectrum Orange and
6736:
6537:Augmentative and alternative communication
6296:
6186:
6172:
6164:
5835:
5822:
5694:
5382:
5361:
5347:
5339:
5065:
5051:
5043:
4858:Purine nucleoside phosphorylase deficiency
4706:Transient hypogammaglobulinemia of infancy
4688:
4669:
4640:
4626:
4618:
4560:Ritvo Autism and Asperger Diagnostic Scale
4015:
4001:
3993:
3747:
3567:"The Genetics of 22q11.2 DS: Demographics"
1606:
1604:
1419:
1417:
1415:
1413:
1313:
1311:
1309:
1307:
1305:
1246:
1244:
1242:
1240:
1238:
1018:) miss. Newer methods of analysis include
50:
32:
6802:Syndromes with craniofacial abnormalities
4252:Avoidant/restrictive food intake disorder
3684:
3515:
3490:OskarsdĂłttir S, Vujic M, Fasth A (2004).
3466:
3377:
3257:
3247:
3162:
3152:
3111:
3035:
3025:
2984:
2932:
2862:
2690:
2594:
2545:
2496:
2280:
2239:
2144:
2095:
2000:
1870:
1778:
1678:
1568:. Elsevier Health Sciences. p. 702.
1562:Goldman, Lee; Schafer, Andrew I. (2015).
1487:
1411:
1409:
1407:
1405:
1403:
1401:
1399:
1397:
1395:
1393:
1373:
613:, which can cause parkinsonian symptoms.
4257:Attention deficit hyperactivity disorder
3636:. 2015 ICD-10-CM Diagnosis Code Q93.81.
2385:
2383:
2347:
2345:
2343:
901:gene may cause defects in mitochondrial
810:is expressed in the neural crest cells,
792:. When there is a loss of expression of
520:hearing loss with craniofacial syndromes
264:during early development, while 10% are
260:. About 90% of cases occur due to a new
6572:Disproportionality in special education
4443:Multiple complex developmental disorder
3603:. 2015 ICD-10-CM Diagnosis Code D82.1.
2460:
2458:
2456:
1595:March of Dimes-Birth Defects Foundation
1184:
1039:Array-comparative genomic hybridization
339:and low levels of parathyroid hormone (
5146:Asplenia with cardiovascular anomalies
5022:Terminal complement pathway deficiency
4524:Autism Diagnostic Observation Schedule
3640:from the original on 24 September 2015
3607:from the original on 24 September 2015
1024:quantitative polymerase chain reaction
844:during early development. The role of
5218:Intranodal palisaded myofibroblastoma
3980:. University of Washington, Seattle.
3959:. University of Washington, Seattle.
3737:The U.S. National Library of Medicine
3571:Information for Medical Professionals
716:DiGeorge syndrome is inherited in an
7:
3915:chromosome-22q11-2-deletion-syndrome
1329:from the original on 28 January 2017
1097:due to a genetic deletion syndrome.
165:Involves many healthcare specialties
6767:IUIS-PID table 3 immunodeficiencies
6679:Disability in children's literature
6043:Desmoplastic small-round-cell tumor
5027:Paroxysmal nocturnal hemoglobinuria
4274:Developmental coordination disorder
2483:Packham EA, Brook JD (April 2003).
2465:Online Mendelian Inheritance in Man
862:In mice, haploinsufficiency of the
425:(40% of individuals), particularly
6782:Autosomal monosomies and deletions
6542:Emotional or behavioral disability
3061:Newborn and Infant Nursing Reviews
2965:American Journal of Human Genetics
2913:American Journal of Human Genetics
1625:10.2459/01.JCM.0000203848.90267.3e
578:This syndrome is characterized by
525:Laryngotracheoesophageal anomalies
453:abnormalities (50%), particularly
25:
4534:Gilliam Asperger's disorder scale
4352:Fetal valproate spectrum disorder
4124:Childhood disintegrative disorder
3577:from the original on 9 March 2016
1981:Eur Arch Psychiatry Clin Neurosci
872:and 22q11.2 deletion phenotypes.
724:DiGeorge syndrome is caused by a
648:. This phenomenon is referred as
155:Oculo-auriculo-vertebral spectrum
6735:
6726:
6725:
5616:22q11.2 distal deletion syndrome
5321:Postmastectomy lymphangiosarcoma
5289:Lymphedema–distichiasis syndrome
4790:Common variable immunodeficiency
4104:Pervasive developmental disorder
3412:from the original on 2016-04-07.
2491:. 12 Spec No 1 (90001): R37–44.
2485:"T-box genes in human disorders"
2282:10.1097/00125817-200101000-00016
1582:from the original on 2017-11-05.
1435:from the original on 13 May 2017
1262:from the original on 5 July 2017
491:(50%)(due to hypoparathyroidism)
437:(34%), tetralogy of Fallot, and
217:. Associated conditions include
176:Depends on the specific symptoms
6015:Dermatofibrosarcoma protuberans
5958:Acute megakaryoblastic leukemia
5886:Anaplastic large-cell lymphoma
5548:Chromosome 5q deletion syndrome
4962:Idiopathic CD4+ lymphocytopenia
3719:from the original on 2017-06-10
552:develops in 25-30% by adulthood
6557:Disability and LGBT identities
5234:Template:Respiratory pathology
5032:Complement receptor deficiency
4902:Adenosine deaminase deficiency
4555:Childhood Autism Spectrum Test
3972:Firth HV (February 17, 2009).
3406:The Hospital for Sick Children
798:during the development of the
381:Cardiac abnormality (commonly
1:
6777:Syndromes affecting the heart
6369:Services for mental disorders
5738:Klinefelter syndrome (47,XXY)
5503:1q21.1 copy number variations
4529:Childhood Autism Rating Scale
4377:PTEN hamartoma tumor syndrome
4267:obsessive–compulsive disorder
4199:Pathological demand avoidance
4083:Societal and cultural aspects
3630:"Velo-cardio-facial syndrome"
2404:10.1016/S0021-9924(00)00018-6
2137:10.1016/S1474-4422(16)00071-5
1613:J Cardiovasc Med (Hagerstown)
1565:Goldman-Cecil Medicine E-Book
1533:10.1016/S0140-6736(07)61601-8
936:
435:persistent truncus arteriosus
6762:Autosomal dominant disorders
6374:Services for disabled people
5944:Acute promyelocytic leukemia
5900:Acute lymphoblastic leukemia
5592:17q12 microdeletion syndrome
5467:22q11.2 duplication syndrome
5445:16p11.2 duplication syndrome
3370:10.1182/blood-2006-10-048652
2538:10.1097/DBP.0000000000000210
2306:Eur Child Adolesc Psychiatry
2088:10.1001/jamaneurol.2013.3646
1816:10.1016/j.schres.2004.02.008
1724:10.1016/j.schres.2006.01.019
1125:22q11.2 duplication syndrome
598:and about a quarter develop
302:velopharyngeal insufficiency
85:, specific facial features,
6657:Arts, media, culture, sport
5511:1q21.1 duplication syndrome
5398:1q21.1 duplication syndrome
5316:Postinflammatory lymphedema
5208:Generalized lymphadenopathy
5076:: organ and vessel diseases
4701:X-linked agammaglobulinemia
4519:Autism Diagnostic Interview
4289:Sensory processing disorder
4154:Autism and LGBTQ identities
3953:"22q11.2 Deletion Syndrome"
3677:10.1016/j.jpeds.2011.02.039
3073:10.1053/j.nainr.2007.12.006
2366:10.1016/j.jpeds.2005.03.007
1771:10.1176/appi.ajp.160.9.1580
1680:10.1097/MD.0b013e3182060469
1425:"22q11.2 deletion syndrome"
1252:"22q11.2 deletion syndrome"
484:attention deficit disorders
455:velopharyngeal incompetence
359:(low platelet levels), and
18:Velo-cardio-facial syndrome
6823:
6684:Disability in horror films
6476:Activities of daily living
4397:Tuberous sclerosis complex
4387:Smith–Lemli–Opitz syndrome
4362:MECP2 duplication syndrome
4342:Cornelia de Lange syndrome
4294:Global developmental delay
2977:10.1016/j.ajhg.2015.12.008
2925:10.1016/j.ajhg.2015.12.009
2398:(3): 187–203, quiz 203–4.
1847:"Closing time for CATCH22"
1472:10.1016/j.aace.2022.02.001
1460:AACE Clinical Case Reports
909:stress and a reduction in
143:Smith–Lemli–Opitz syndrome
6792:Syndromes affecting teeth
6721:
6057:Alveolar rhabdomyosarcoma
5792:XYYYY syndrome (49,XYYYY)
5758:XXXXY syndrome (49,XXXXY)
5753:XXXYY syndrome (49,XXXYY)
4476:Facilitated communication
4317:22q11.2 deletion syndrome
3904:22q11.2 Deletion Syndrome
3285:. CRC Press. p. 82.
3283:Key Topics in Neonatology
2587:10.1016/j.mcn.2008.07.027
2439:10.1080/13682820500361497
2176:Cleft Palate Craniofac. J
2038:10.1080/09297040590911194
1993:10.1007/s00406-014-0546-0
1194:Dermatology: 2-Volume Set
937:Parkinson's disease genes
650:velopharyngeal inadequacy
439:ventricular septal defect
203:congenital heart problems
195:22q11.2 deletion syndrome
83:congenital heart problems
58:
49:
6577:Sexuality and disability
6552:Disability and disasters
6464:Structural and assistive
5532:Wolf–Hirschhorn syndrome
5507:1q21.1 deletion syndrome
5370:Chromosome abnormalities
4917:Bare lymphocyte syndrome
4769:Wiskott–Aldrich syndrome
4550:Autism-spectrum quotient
4367:Neurofibromatosis type I
3926:22q112-deletion-syndrome
2427:Int J Lang Commun Disord
1135:Contiguous gene syndrome
1130:Asymmetric crying facies
423:Congenital heart disease
207:developmental disability
119:(typically new mutation)
6691:Disability in the media
6562:Disability and religion
6501:Personal Care Assistant
5916:Philadelphia chromosome
5787:XYYY syndrome (48,XYYY)
5748:XXXY syndrome (48,XXXY)
5743:XXYY syndrome (48,XXYY)
5628:22q13 deletion syndrome
5403:2q31.1 microduplication
5017:Complement 3 deficiency
5002:Complement 4 deficiency
4998:Complement 2 deficiency
4481:Lancet MMR autism fraud
4423:Critical autism studies
4322:22q13 deletion syndrome
4284:Intellectual disability
4234:Emotional dysregulation
4131:High-functioning autism
3508:10.1136/adc.2003.026880
3201:10.1111/1471-0528.12873
3027:10.1186/1752-1947-1-167
1845:Burn J (October 1999).
1429:Genetics Home Reference
1095:intellectual disability
469:individuals) including
431:interrupted aortic arch
383:interrupted aortic arch
211:intellectual disability
6674:Disability in the arts
6567:Disability and poverty
6506:Physical accessibility
5775:Pentasomy X (49,XXXXX)
5707:Turner syndrome (45,X)
5588:Smith–Magenis syndrome
5584:Miller–Dieker syndrome
5519:1p36 deletion syndrome
4491:Rapid prompting method
4433:Double empathy problem
4418:Autism rights movement
3597:"Di George's syndrome"
3249:10.1186/1755-8166-4-12
1059:Thymus transplantation
1002:
994:
721:
661:Vocabulary acquisition
335:due to malfunctioning
138:Differential diagnosis
129:Based on symptoms and
6265:driver rehabilitation
5782:XYY syndrome (47,XYY)
5770:Tetrasomy X (48,XXXX)
5653:Prader–Willi syndrome
5274:Congenital lymphedema
4992:Hereditary angioedema
4848:Ataxia–telangiectasia
4693:Hypogammaglobulinemia
4576:Autism-related topics
4140:Associated conditions
3974:"22q11.2 Duplication"
2683:10.1038/ejhg.2015.219
2318:10.1007/s007870050005
1863:10.1136/jmg.36.10.737
1366:10.1136/jmg.30.10.822
1221:. Saunders Elsevier.
1034:in clinical testing.
1031:copy number variation
1000:
984:
907:endoplasmic reticulum
715:
586:Cognitive impairments
580:incomplete penetrance
572:Psychiatric disorders
476:Learning difficulties
306:learning disabilities
6598:Models of disability
6582:Youth and disability
6547:Invisible disability
6496:Orthotics and braces
6481:Assistive technology
6293:Rights, law, support
5874:Mantle cell lymphoma
5544:Cri du chat syndrome
5311:Factitial lymphedema
5301:Secondary lymphedema
5012:Properdin deficiency
4833:Di George's syndrome
4716:Dysgammaglobulinemia
4581:Fictional characters
4309:Associated syndromes
3709:"Same Name Campaign"
3547:(4): 1059–67, 1070.
3459:10.1038/gim.2014.175
2891:www.ncbi.nlm.nih.gov
2729:10.1093/hmg/8.7.1157
2636:10.1002/ajmg.a.10914
2624:Am. J. Med. Genet. A
1667:Medicine (Baltimore)
1196:. St. Louis: Mosby.
535:Autoimmune disorders
235:rheumatoid arthritis
231:autoimmune disorders
107:autoimmune disorders
6250:Learning disability
5860:Follicular lymphoma
5213:Castleman's disease
4458:Violence and autism
4244:Comorbid conditions
3428:The Washington Post
3154:10.1155/2014/590298
2575:Mol. Cell. Neurosci
2526:J Dev Behav Pediatr
943:Parkinson's disease
927:cardiac arrhythmias
657:expressive language
617:Speech and language
607:Parkinson's disease
391:tetralogy of Fallot
6664:Disability culture
6591:Disability studies
6486:Independent living
6214:Disability studies
6099:Uniparental disomy
6094:Fragile X syndrome
6029:Myxoid liposarcoma
5881:t(11 CCND1:14 IGH)
5765:Trisomy X (47,XXX)
5643:genomic imprinting
5423:Distal trisomy 10q
5306:Bullous lymphedema
5279:Lymphedema praecox
5269:Primary lymphedema
5180:Splenic infarction
4864:Hyper IgM syndrome
4774:Hyper-IgE syndrome
4739:Hyper IgM syndrome
4655:disorders causing
4357:Fragile X syndrome
4164:Autistic catatonia
3851:External resources
3104:10.1002/humu.20640
2671:Eur. J. Hum. Genet
2498:10.1093/hmg/ddg077
2026:Child Neuropsychol
1167:Zellweger syndrome
1162:Genetic counseling
1003:
995:
782:neural crest cells
780:of post migration
756:Haploinsufficiency
722:
718:autosomal dominant
701:phonemic inventory
666:Receptive language
480:cognitive deficits
387:truncus arteriosus
353:hypoparathyroidism
337:parathyroid glands
295:Signs and symptoms
270:autosomal dominant
6807:Medical mnemonics
6787:Genetic anomalies
6749:
6748:
6618:Neuroqueer theory
6521:Web accessibility
6471:Accessible toilet
6459:
6458:
6312:Disability rights
6307:Ableism/disablism
6161:
6160:
6113:Marker chromosome
6082:
6081:
5975:
5974:
5812:
5811:
5679:
5678:
5649:Angelman syndrome
5604:DiGeorge syndrome
5572:Jacobsen syndrome
5560:Williams syndrome
5336:
5335:
5246:Lymphatic vessels
5106:DiGeorge syndrome
5074:Lymphatic disease
5040:
5039:
4925:
4924:
4824:thymic hypoplasia
4809:T cell deficiency
4803:
4802:
4615:
4614:
4512:Diagnostic scales
4402:Williams syndrome
4327:Angelman syndrome
4209:Special interests
4174:Autistic meltdown
4114:Asperger syndrome
3946:
3945:
3893:DiGeorge syndrome
3865:DiGeorge syndrome
2228:Am. J. Med. Genet
1942:Am. J. Med. Genet
1527:(9596): 1443–52.
1228:978-0-7216-2921-6
1203:978-1-4160-2999-1
1152:List of syndromes
1076:SickKids Hospital
1065:are treated with
1022:assay (MLPA) and
897:Mutations in the
800:pharyngeal arches
646:hypernasal speech
558:(with or without
478:(90%), including
322:mediated response
281:multidisciplinary
248:in the middle of
191:DiGeorge syndrome
188:
187:
147:Alagille syndrome
125:Diagnostic method
81:Varied; commonly
36:DiGeorge syndrome
30:Medical condition
16:(Redirected from
6814:
6797:Syndromic autism
6739:
6738:
6729:
6728:
6711:Special Olympics
6603:Inspiration porn
6516:Universal design
6317:Pejorative terms
6297:
6260:Physical therapy
6188:
6181:
6174:
6165:
6104:XX male syndrome
6001:Synovial sarcoma
5878:Multiple myeloma
5846:Burkitt lymphoma
5836:
5823:
5726:other karyotypes
5695:
5477:Cat-eye syndrome
5383:
5363:
5356:
5349:
5340:
5328:Waldmann disease
5294:Milroy's disease
5284:Lymphedema tarda
5259:Lymphangiectasia
5173:Banti's syndrome
5163:Wandering spleen
5153:Accessory spleen
5123:Thymic carcinoma
5067:
5060:
5053:
5044:
4912:ZAP70 deficiency
4843:Nezelof syndrome
4689:
4670:
4657:immunodeficiency
4642:
4635:
4628:
4619:
4607:Sensory friendly
4543:Screening scales
4392:Timothy syndrome
4299:Verbal Dyspraxia
4262:Anxiety disorder
4194:Nonverbal autism
4169:Autistic masking
4159:Autistic burnout
4017:
4010:
4003:
3994:
3989:
3968:
3748:
3728:
3727:
3725:
3724:
3705:
3699:
3698:
3688:
3656:
3650:
3649:
3647:
3645:
3626:
3617:
3616:
3614:
3612:
3593:
3587:
3586:
3584:
3582:
3563:
3557:
3556:
3541:Am Fam Physician
3536:
3530:
3529:
3519:
3496:Arch. Dis. Child
3487:
3481:
3480:
3470:
3438:
3432:
3431:
3430:. 30 April 2021.
3420:
3414:
3413:
3398:
3392:
3391:
3381:
3349:
3343:
3342:
3340:
3339:
3333:www.uptodate.com
3325:
3319:
3318:
3316:
3314:
3303:
3297:
3296:
3278:
3272:
3271:
3261:
3251:
3227:
3221:
3220:
3183:
3177:
3176:
3166:
3156:
3132:
3126:
3125:
3115:
3083:
3077:
3076:
3056:
3050:
3049:
3039:
3029:
3005:
2999:
2998:
2988:
2956:
2947:
2946:
2936:
2904:
2895:
2894:
2883:
2877:
2876:
2866:
2834:
2828:
2827:
2808:10.1038/35065105
2802:(6824): 97–101.
2790:
2784:
2783:
2747:
2741:
2740:
2711:
2705:
2704:
2694:
2662:
2656:
2655:
2618:
2609:
2608:
2598:
2566:
2560:
2559:
2549:
2517:
2511:
2510:
2500:
2480:
2471:
2462:
2451:
2450:
2422:
2416:
2415:
2387:
2378:
2377:
2349:
2338:
2337:
2301:
2295:
2294:
2284:
2260:
2254:
2253:
2243:
2219:
2208:
2207:
2170:
2159:
2158:
2148:
2116:
2110:
2109:
2099:
2067:
2058:
2057:
2021:
2015:
2014:
2004:
1972:
1966:
1965:
1937:
1931:
1930:
1911:10.1038/35098574
1894:
1885:
1884:
1874:
1842:
1836:
1835:
1799:
1793:
1792:
1782:
1750:
1744:
1743:
1707:
1701:
1700:
1682:
1658:
1645:
1644:
1608:
1599:
1598:
1590:
1584:
1583:
1559:
1553:
1552:
1516:
1510:
1509:
1491:
1451:
1445:
1444:
1442:
1440:
1421:
1388:
1387:
1377:
1345:
1339:
1338:
1336:
1334:
1315:
1300:
1299:
1278:
1272:
1271:
1269:
1267:
1248:
1233:
1232:
1214:
1208:
1207:
1189:
694:
690:
686:
682:
644:, it will cause
540:Immune disorders
357:thrombocytopenia
193:, also known as
70:Medical genetics
54:
33:
21:
6822:
6821:
6817:
6816:
6815:
6813:
6812:
6811:
6752:
6751:
6750:
6745:
6717:
6652:
6586:
6525:
6455:
6429:Activist groups
6424:
6378:
6357:
6321:
6288:
6228:
6197:
6192:
6162:
6157:
6118:Ring chromosome
6078:
5971:
5904:
5808:
5724:
5711:
5675:
5488:
5387:
5372:
5367:
5337:
5332:
5240:
5223:Kikuchi disease
5203:Lymphadenopathy
5189:
5127:
5077:
5071:
5041:
5036:
4973:
4966:
4954:Lymphocytopenia
4952:
4943:
4921:
4897:
4884:
4873:
4829:hypoparathyroid
4811:
4799:
4778:
4710:
4680:
4659:
4646:
4616:
4611:
4602:Autism-friendly
4590:
4564:
4538:
4507:
4462:
4406:
4372:Noonan syndrome
4332:CHARGE syndrome
4303:
4238:
4204:Savant syndrome
4141:
4135:
4092:
4073:Pathophysiology
4026:
4021:
3971:
3950:
3947:
3942:
3941:
3846:
3845:
3759:
3745:
3732:
3731:
3722:
3720:
3707:
3706:
3702:
3671:(2): 332–9.e1.
3658:
3657:
3653:
3643:
3641:
3628:
3627:
3620:
3610:
3608:
3595:
3594:
3590:
3580:
3578:
3565:
3564:
3560:
3538:
3537:
3533:
3489:
3488:
3484:
3440:
3439:
3435:
3422:
3421:
3417:
3400:
3399:
3395:
3364:(10): 4539–47.
3351:
3350:
3346:
3337:
3335:
3327:
3326:
3322:
3312:
3310:
3305:
3304:
3300:
3293:
3280:
3279:
3275:
3229:
3228:
3224:
3195:(10): 1245–52.
3185:
3184:
3180:
3134:
3133:
3129:
3085:
3084:
3080:
3058:
3057:
3053:
3007:
3006:
3002:
2958:
2957:
2950:
2906:
2905:
2898:
2885:
2884:
2880:
2855:10.1038/nm.4240
2836:
2835:
2831:
2792:
2791:
2787:
2749:
2748:
2744:
2713:
2712:
2708:
2664:
2663:
2659:
2620:
2619:
2612:
2568:
2567:
2563:
2519:
2518:
2514:
2489:Hum. Mol. Genet
2482:
2481:
2474:
2463:
2454:
2424:
2423:
2419:
2392:J Commun Disord
2389:
2388:
2381:
2351:
2350:
2341:
2303:
2302:
2298:
2262:
2261:
2257:
2221:
2220:
2211:
2172:
2171:
2162:
2118:
2117:
2113:
2082:(11): 1359–66.
2069:
2068:
2061:
2023:
2022:
2018:
1974:
1973:
1969:
1939:
1938:
1934:
1899:Nat. Rev. Genet
1896:
1895:
1888:
1844:
1843:
1839:
1801:
1800:
1796:
1759:Am J Psychiatry
1752:
1751:
1747:
1718:(2–3): 187–93.
1709:
1708:
1704:
1660:
1659:
1648:
1610:
1609:
1602:
1592:
1591:
1587:
1576:
1561:
1560:
1556:
1518:
1517:
1513:
1453:
1452:
1448:
1438:
1436:
1423:
1422:
1391:
1347:
1346:
1342:
1332:
1330:
1317:
1316:
1303:
1280:
1279:
1275:
1265:
1263:
1250:
1249:
1236:
1229:
1216:
1215:
1211:
1204:
1191:
1190:
1186:
1181:
1176:
1172:CHARGE syndrome
1120:
1107:
1090:
1071:Cardiac surgery
1051:
991:Arylsulfatase A
979:
939:
880:
860:
778:differentiation
772:is part of the
766:Point mutations
753:
710:
630:intelligibility
619:
588:
576:
542:due to reduced
504:anomalies (37%)
429:malformations (
297:
289:Angelo DiGeorge
274:genetic testing
239:Graves' disease
219:kidney problems
131:genetic testing
99:Kidney problems
31:
28:
23:
22:
15:
12:
11:
5:
6820:
6818:
6810:
6809:
6804:
6799:
6794:
6789:
6784:
6779:
6774:
6769:
6764:
6754:
6753:
6747:
6746:
6744:
6743:
6733:
6722:
6719:
6718:
6716:
6715:
6714:
6713:
6708:
6703:
6693:
6688:
6687:
6686:
6681:
6671:
6669:Disability art
6666:
6660:
6658:
6654:
6653:
6651:
6650:
6645:
6640:
6635:
6630:
6625:
6620:
6615:
6610:
6605:
6600:
6594:
6592:
6588:
6587:
6585:
6584:
6579:
6574:
6569:
6564:
6559:
6554:
6549:
6544:
6539:
6533:
6531:
6527:
6526:
6524:
6523:
6518:
6513:
6508:
6503:
6498:
6493:
6488:
6483:
6478:
6473:
6467:
6465:
6461:
6460:
6457:
6456:
6454:
6453:
6448:
6443:
6438:
6432:
6430:
6426:
6425:
6423:
6422:
6417:
6412:
6407:
6402:
6397:
6392:
6386:
6384:
6380:
6379:
6377:
6376:
6371:
6365:
6363:
6359:
6358:
6356:
6355:
6350:
6345:
6340:
6335:
6329:
6327:
6323:
6322:
6320:
6319:
6314:
6309:
6303:
6301:
6294:
6290:
6289:
6287:
6286:
6285:
6284:
6279:
6269:
6268:
6267:
6257:
6252:
6247:
6242:
6236:
6234:
6230:
6229:
6227:
6226:
6221:
6216:
6211:
6205:
6203:
6199:
6198:
6193:
6191:
6190:
6183:
6176:
6168:
6159:
6158:
6156:
6155:
6154:
6153:
6115:
6110:
6101:
6096:
6090:
6088:
6084:
6083:
6080:
6079:
6077:
6076:
6054:
6040:
6026:
6012:
5998:
5983:
5981:
5977:
5976:
5973:
5972:
5970:
5969:
5955:
5941:
5927:
5912:
5910:
5906:
5905:
5903:
5902:
5897:
5883:
5871:
5857:
5842:
5840:
5833:
5820:
5818:Translocations
5814:
5813:
5810:
5809:
5807:
5806:
5801:
5795:
5794:
5789:
5784:
5778:
5777:
5772:
5767:
5761:
5760:
5755:
5750:
5745:
5740:
5734:
5732:
5713:
5712:
5710:
5709:
5703:
5701:
5692:
5681:
5680:
5677:
5676:
5674:
5673:
5663:
5662:
5661:
5660:
5638:
5637:
5636:
5635:
5625:
5624:
5623:
5613:
5612:
5611:
5601:
5600:
5599:
5581:
5580:
5579:
5569:
5568:
5567:
5557:
5556:
5555:
5541:
5540:
5539:
5529:
5528:
5527:
5498:
5496:
5490:
5489:
5487:
5486:
5485:
5484:
5474:
5469:
5464:
5463:
5462:
5452:
5447:
5442:
5437:
5436:
5435:
5428:Patau syndrome
5425:
5420:
5415:
5410:
5405:
5400:
5394:
5392:
5380:
5374:
5373:
5368:
5366:
5365:
5358:
5351:
5343:
5334:
5333:
5331:
5330:
5325:
5324:
5323:
5318:
5313:
5308:
5298:
5297:
5296:
5291:
5286:
5281:
5276:
5266:
5261:
5256:
5250:
5248:
5242:
5241:
5239:
5238:
5237:
5236:
5225:
5220:
5215:
5210:
5205:
5199:
5197:
5191:
5190:
5188:
5187:
5182:
5177:
5176:
5175:
5165:
5160:
5155:
5150:
5149:
5148:
5137:
5135:
5129:
5128:
5126:
5125:
5120:
5115:
5113:Ectopic thymus
5110:
5109:
5108:
5098:
5093:
5087:
5085:
5079:
5078:
5072:
5070:
5069:
5062:
5055:
5047:
5038:
5037:
5035:
5034:
5029:
5024:
5019:
5014:
5009:
5007:MBL deficiency
5004:
4995:
4978:
4976:
4968:
4967:
4965:
4964:
4958:
4956:
4945:
4944:
4942:
4941:
4935:
4933:
4927:
4926:
4923:
4922:
4920:
4919:
4914:
4909:
4907:Omenn syndrome
4904:
4888:
4886:
4875:
4874:
4872:
4871:
4852:
4851:
4845:
4836:
4819:
4817:
4805:
4804:
4801:
4800:
4798:
4797:
4792:
4786:
4784:
4780:
4779:
4777:
4776:
4771:
4766:
4760:
4755:
4750:
4745:
4736:
4734:IgM deficiency
4731:
4729:IgG deficiency
4726:
4724:IgA deficiency
4720:
4718:
4712:
4711:
4709:
4708:
4703:
4697:
4695:
4686:
4667:
4661:
4660:
4647:
4645:
4644:
4637:
4630:
4622:
4613:
4612:
4610:
4609:
4604:
4598:
4596:
4595:Accommodations
4592:
4591:
4589:
4588:
4583:
4578:
4572:
4570:
4566:
4565:
4563:
4562:
4557:
4552:
4546:
4544:
4540:
4539:
4537:
4536:
4531:
4526:
4521:
4515:
4513:
4509:
4508:
4506:
4505:
4504:
4503:
4493:
4488:
4483:
4478:
4472:
4470:
4464:
4463:
4461:
4460:
4455:
4453:TEACCH program
4450:
4448:Neurodiversity
4445:
4440:
4435:
4430:
4428:Discrimination
4425:
4420:
4414:
4412:
4411:Related issues
4408:
4407:
4405:
4404:
4399:
4394:
4389:
4384:
4379:
4374:
4369:
4364:
4359:
4354:
4349:
4344:
4339:
4337:Cohen syndrome
4334:
4329:
4324:
4319:
4313:
4311:
4305:
4304:
4302:
4301:
4296:
4291:
4286:
4281:
4276:
4271:
4270:
4269:
4259:
4254:
4248:
4246:
4240:
4239:
4237:
4236:
4231:
4226:
4221:
4216:
4211:
4206:
4201:
4196:
4191:
4186:
4181:
4176:
4171:
4166:
4161:
4156:
4151:
4145:
4143:
4137:
4136:
4134:
4133:
4128:
4127:
4126:
4121:
4116:
4111:
4109:Classic autism
4100:
4098:
4094:
4093:
4091:
4090:
4085:
4080:
4078:Sex and gender
4075:
4070:
4065:
4060:
4055:
4050:
4045:
4040:
4034:
4032:
4028:
4027:
4022:
4020:
4019:
4012:
4005:
3997:
3991:
3990:
3969:
3944:
3943:
3940:
3939:
3928:
3917:
3906:
3895:
3884:
3867:
3855:
3854:
3852:
3848:
3847:
3844:
3843:
3832:
3821:
3810:
3791:
3776:
3760:
3755:
3754:
3752:
3751:Classification
3744:
3743:External links
3741:
3730:
3729:
3700:
3651:
3618:
3588:
3558:
3531:
3482:
3453:(8): 599–609.
3433:
3415:
3393:
3344:
3320:
3298:
3291:
3273:
3222:
3178:
3141:Biomed Res Int
3127:
3078:
3067:(1): e11–e19.
3051:
3014:J Med Case Rep
3000:
2948:
2896:
2878:
2829:
2785:
2742:
2723:(7): 1157–67.
2706:
2657:
2610:
2561:
2512:
2472:
2452:
2417:
2379:
2339:
2296:
2255:
2209:
2160:
2111:
2059:
2016:
1967:
1932:
1905:(11): 858–68.
1886:
1837:
1810:(2–3): 263–7.
1804:Schizophr. Res
1794:
1745:
1712:Schizophr. Res
1702:
1646:
1600:
1585:
1574:
1554:
1511:
1466:(4): 181–182.
1446:
1389:
1340:
1301:
1284:Cleft Palate J
1273:
1234:
1227:
1209:
1202:
1183:
1182:
1180:
1177:
1175:
1174:
1169:
1164:
1159:
1154:
1149:
1144:
1137:
1132:
1127:
1121:
1119:
1116:
1106:
1103:
1089:
1086:
1050:
1047:
978:
975:
938:
935:
931:encephalopathy
923:rhabdomyolysis
919:hyperammonemia
905:and increased
879:
874:
859:
854:
827:great arteries
752:
747:
709:
706:
618:
615:
611:antipsychotics
602:by adulthood.
587:
584:
575:
574:
569:
563:
553:
547:
537:
532:
529:Growth hormone
526:
523:
505:
499:
498:problems (30%)
492:
486:
473:
448:
442:
419:
415:
414:
411:
408:
401:
394:
349:hypothyroidism
296:
293:
186:
185:
182:
178:
177:
174:
168:
167:
162:
158:
157:
140:
134:
133:
127:
121:
120:
114:
110:
109:
96:
90:
89:
79:
73:
72:
67:
61:
60:
56:
55:
47:
46:
42:
38:
37:
29:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
6819:
6808:
6805:
6803:
6800:
6798:
6795:
6793:
6790:
6788:
6785:
6783:
6780:
6778:
6775:
6773:
6770:
6768:
6765:
6763:
6760:
6759:
6757:
6742:
6734:
6732:
6724:
6723:
6720:
6712:
6709:
6707:
6704:
6702:
6699:
6698:
6697:
6694:
6692:
6689:
6685:
6682:
6680:
6677:
6676:
6675:
6672:
6670:
6667:
6665:
6662:
6661:
6659:
6655:
6649:
6646:
6644:
6641:
6639:
6636:
6634:
6631:
6629:
6626:
6624:
6621:
6619:
6616:
6614:
6611:
6609:
6606:
6604:
6601:
6599:
6596:
6595:
6593:
6589:
6583:
6580:
6578:
6575:
6573:
6570:
6568:
6565:
6563:
6560:
6558:
6555:
6553:
6550:
6548:
6545:
6543:
6540:
6538:
6535:
6534:
6532:
6530:Social issues
6528:
6522:
6519:
6517:
6514:
6512:
6509:
6507:
6504:
6502:
6499:
6497:
6494:
6492:
6489:
6487:
6484:
6482:
6479:
6477:
6474:
6472:
6469:
6468:
6466:
6462:
6452:
6449:
6447:
6444:
6442:
6439:
6437:
6434:
6433:
6431:
6427:
6421:
6418:
6416:
6413:
6411:
6408:
6406:
6403:
6401:
6398:
6396:
6393:
6391:
6388:
6387:
6385:
6381:
6375:
6372:
6370:
6367:
6366:
6364:
6360:
6354:
6351:
6349:
6346:
6344:
6341:
6339:
6336:
6334:
6331:
6330:
6328:
6324:
6318:
6315:
6313:
6310:
6308:
6305:
6304:
6302:
6298:
6295:
6291:
6283:
6280:
6278:
6275:
6274:
6273:
6272:Special needs
6270:
6266:
6263:
6262:
6261:
6258:
6256:
6255:Mainstreaming
6253:
6251:
6248:
6246:
6243:
6241:
6238:
6237:
6235:
6231:
6225:
6222:
6220:
6219:Medical model
6217:
6215:
6212:
6210:
6207:
6206:
6204:
6200:
6196:
6189:
6184:
6182:
6177:
6175:
6170:
6169:
6166:
6152:
6148:
6144:
6140:
6136:
6132:
6128:
6124:
6121:
6120:
6119:
6116:
6114:
6111:
6109:
6105:
6102:
6100:
6097:
6095:
6092:
6091:
6089:
6085:
6074:
6070:
6066:
6062:
6058:
6055:
6052:
6048:
6044:
6041:
6038:
6034:
6030:
6027:
6024:
6020:
6016:
6013:
6010:
6006:
6002:
5999:
5996:
5992:
5988:
5987:Ewing sarcoma
5985:
5984:
5982:
5978:
5967:
5963:
5959:
5956:
5953:
5949:
5945:
5942:
5939:
5935:
5931:
5928:
5925:
5921:
5917:
5914:
5913:
5911:
5907:
5901:
5898:
5895:
5891:
5887:
5884:
5882:
5879:
5875:
5872:
5869:
5865:
5861:
5858:
5855:
5851:
5847:
5844:
5843:
5841:
5837:
5834:
5832:
5828:
5824:
5821:
5819:
5815:
5805:
5802:
5800:
5797:
5796:
5793:
5790:
5788:
5785:
5783:
5780:
5779:
5776:
5773:
5771:
5768:
5766:
5763:
5762:
5759:
5756:
5754:
5751:
5749:
5746:
5744:
5741:
5739:
5736:
5735:
5733:
5731:
5727:
5722:
5718:
5714:
5708:
5705:
5704:
5702:
5700:
5696:
5693:
5690:
5686:
5682:
5672:
5671:Proximal 18q-
5668:
5665:
5664:
5658:
5654:
5650:
5647:
5646:
5645:
5644:
5640:
5639:
5634:
5631:
5630:
5629:
5626:
5622:
5619:
5618:
5617:
5614:
5610:
5607:
5606:
5605:
5602:
5598:
5595:
5594:
5593:
5589:
5585:
5582:
5578:
5575:
5574:
5573:
5570:
5566:
5563:
5562:
5561:
5558:
5554:
5551:
5550:
5549:
5545:
5542:
5538:
5535:
5534:
5533:
5530:
5526:
5523:
5522:
5520:
5516:
5512:
5508:
5504:
5500:
5499:
5497:
5495:
5491:
5483:
5480:
5479:
5478:
5475:
5473:
5470:
5468:
5465:
5461:
5458:
5457:
5456:
5455:Down syndrome
5453:
5451:
5448:
5446:
5443:
5441:
5438:
5434:
5431:
5430:
5429:
5426:
5424:
5421:
5419:
5416:
5414:
5411:
5409:
5406:
5404:
5401:
5399:
5396:
5395:
5393:
5391:
5386:Duplications,
5384:
5381:
5379:
5375:
5371:
5364:
5359:
5357:
5352:
5350:
5345:
5344:
5341:
5329:
5326:
5322:
5319:
5317:
5314:
5312:
5309:
5307:
5304:
5303:
5302:
5299:
5295:
5292:
5290:
5287:
5285:
5282:
5280:
5277:
5275:
5272:
5271:
5270:
5267:
5265:
5262:
5260:
5257:
5255:
5252:
5251:
5249:
5247:
5243:
5235:
5231:
5230:
5229:
5226:
5224:
5221:
5219:
5216:
5214:
5211:
5209:
5206:
5204:
5201:
5200:
5198:
5196:
5192:
5186:
5185:Splenic tumor
5183:
5181:
5178:
5174:
5171:
5170:
5169:
5166:
5164:
5161:
5159:
5156:
5154:
5151:
5147:
5144:
5143:
5142:
5139:
5138:
5136:
5134:
5130:
5124:
5121:
5119:
5116:
5114:
5111:
5107:
5104:
5103:
5102:
5099:
5097:
5094:
5092:
5089:
5088:
5086:
5084:
5080:
5075:
5068:
5063:
5061:
5056:
5054:
5049:
5048:
5045:
5033:
5030:
5028:
5025:
5023:
5020:
5018:
5015:
5013:
5010:
5008:
5005:
5003:
4999:
4996:
4993:
4989:
4985:
4984:
4980:
4979:
4977:
4975:
4969:
4963:
4960:
4959:
4957:
4955:
4950:
4946:
4940:
4937:
4936:
4934:
4932:
4928:
4918:
4915:
4913:
4910:
4908:
4905:
4903:
4900:
4896:
4893:
4890:
4889:
4887:
4883:
4880:
4876:
4869:
4865:
4862:
4861:
4860:
4859:
4856:
4849:
4846:
4844:
4840:
4839:euparathyroid
4837:
4834:
4830:
4827:
4825:
4821:
4820:
4818:
4815:
4810:
4806:
4796:
4793:
4791:
4788:
4787:
4785:
4781:
4775:
4772:
4770:
4767:
4764:
4761:
4759:
4756:
4754:
4751:
4749:
4746:
4744:
4740:
4737:
4735:
4732:
4730:
4727:
4725:
4722:
4721:
4719:
4717:
4713:
4707:
4704:
4702:
4699:
4698:
4696:
4694:
4690:
4687:
4684:
4679:
4675:
4671:
4668:
4666:
4662:
4658:
4654:
4650:
4643:
4638:
4636:
4631:
4629:
4624:
4623:
4620:
4608:
4605:
4603:
4600:
4599:
4597:
4593:
4587:
4584:
4582:
4579:
4577:
4574:
4573:
4571:
4567:
4561:
4558:
4556:
4553:
4551:
4548:
4547:
4545:
4541:
4535:
4532:
4530:
4527:
4525:
4522:
4520:
4517:
4516:
4514:
4510:
4502:
4499:
4498:
4497:
4494:
4492:
4489:
4487:
4484:
4482:
4479:
4477:
4474:
4473:
4471:
4469:
4468:Controversies
4465:
4459:
4456:
4454:
4451:
4449:
4446:
4444:
4441:
4439:
4436:
4434:
4431:
4429:
4426:
4424:
4421:
4419:
4416:
4415:
4413:
4409:
4403:
4400:
4398:
4395:
4393:
4390:
4388:
4385:
4383:
4382:Rett syndrome
4380:
4378:
4375:
4373:
4370:
4368:
4365:
4363:
4360:
4358:
4355:
4353:
4350:
4348:
4347:Down syndrome
4345:
4343:
4340:
4338:
4335:
4333:
4330:
4328:
4325:
4323:
4320:
4318:
4315:
4314:
4312:
4310:
4306:
4300:
4297:
4295:
4292:
4290:
4287:
4285:
4282:
4280:
4277:
4275:
4272:
4268:
4265:
4264:
4263:
4260:
4258:
4255:
4253:
4250:
4249:
4247:
4245:
4241:
4235:
4232:
4230:
4227:
4225:
4222:
4220:
4217:
4215:
4212:
4210:
4207:
4205:
4202:
4200:
4197:
4195:
4192:
4190:
4187:
4185:
4182:
4180:
4177:
4175:
4172:
4170:
4167:
4165:
4162:
4160:
4157:
4155:
4152:
4150:
4147:
4146:
4144:
4142:and phenomena
4138:
4132:
4129:
4125:
4122:
4120:
4117:
4115:
4112:
4110:
4107:
4106:
4105:
4102:
4101:
4099:
4095:
4089:
4086:
4084:
4081:
4079:
4076:
4074:
4071:
4069:
4066:
4064:
4061:
4059:
4056:
4054:
4051:
4049:
4046:
4044:
4041:
4039:
4036:
4035:
4033:
4029:
4025:
4018:
4013:
4011:
4006:
4004:
3999:
3998:
3995:
3987:
3983:
3979:
3975:
3970:
3966:
3962:
3958:
3954:
3949:
3948:
3938:
3934:
3933:
3929:
3927:
3923:
3922:
3918:
3916:
3912:
3911:
3907:
3905:
3901:
3900:
3896:
3894:
3890:
3889:
3885:
3883:
3880:
3877:
3873:
3872:
3868:
3866:
3862:
3861:
3857:
3856:
3853:
3849:
3842:
3838:
3837:
3833:
3831:
3827:
3826:
3822:
3820:
3816:
3815:
3811:
3809:
3805:
3801:
3800:
3796:
3792:
3790:
3786:
3785:
3781:
3777:
3775:
3771:
3770:
3766:
3762:
3761:
3758:
3753:
3749:
3742:
3740:
3739:
3738:
3718:
3714:
3710:
3704:
3701:
3696:
3692:
3687:
3682:
3678:
3674:
3670:
3666:
3662:
3655:
3652:
3639:
3635:
3634:icd10data.com
3631:
3625:
3623:
3619:
3606:
3602:
3601:icd10data.com
3598:
3592:
3589:
3576:
3572:
3568:
3562:
3559:
3554:
3550:
3546:
3542:
3535:
3532:
3527:
3523:
3518:
3513:
3509:
3505:
3502:(2): 148–51.
3501:
3497:
3493:
3486:
3483:
3478:
3474:
3469:
3464:
3460:
3456:
3452:
3448:
3444:
3437:
3434:
3429:
3425:
3419:
3416:
3411:
3407:
3403:
3397:
3394:
3389:
3385:
3380:
3375:
3371:
3367:
3363:
3359:
3355:
3348:
3345:
3334:
3330:
3324:
3321:
3309:. Mayo Clinic
3308:
3302:
3299:
3294:
3292:9781859962343
3288:
3284:
3277:
3274:
3269:
3265:
3260:
3255:
3250:
3245:
3241:
3237:
3236:Mol Cytogenet
3233:
3226:
3223:
3218:
3214:
3210:
3206:
3202:
3198:
3194:
3190:
3182:
3179:
3174:
3170:
3165:
3160:
3155:
3150:
3146:
3142:
3138:
3131:
3128:
3123:
3119:
3114:
3109:
3105:
3101:
3098:(3): 433–40.
3097:
3093:
3089:
3082:
3079:
3074:
3070:
3066:
3062:
3055:
3052:
3047:
3043:
3038:
3033:
3028:
3023:
3019:
3015:
3011:
3004:
3001:
2996:
2992:
2987:
2982:
2978:
2974:
2971:(2): 347–57.
2970:
2966:
2962:
2955:
2953:
2949:
2944:
2940:
2935:
2930:
2926:
2922:
2919:(2): 358–62.
2918:
2914:
2910:
2903:
2901:
2897:
2892:
2888:
2882:
2879:
2874:
2870:
2865:
2860:
2856:
2852:
2848:
2844:
2840:
2833:
2830:
2825:
2821:
2817:
2813:
2809:
2805:
2801:
2797:
2789:
2786:
2781:
2777:
2773:
2769:
2765:
2764:10.1038/85845
2761:
2758:(3): 286–91.
2757:
2753:
2746:
2743:
2738:
2734:
2730:
2726:
2722:
2718:
2717:Hum Mol Genet
2710:
2707:
2702:
2698:
2693:
2688:
2684:
2680:
2677:(6): 844–51.
2676:
2672:
2668:
2661:
2658:
2653:
2649:
2645:
2641:
2637:
2633:
2629:
2625:
2617:
2615:
2611:
2606:
2602:
2597:
2592:
2588:
2584:
2581:(3): 439–51.
2580:
2576:
2572:
2565:
2562:
2557:
2553:
2548:
2543:
2539:
2535:
2532:(8): 639–50.
2531:
2527:
2523:
2516:
2513:
2508:
2504:
2499:
2494:
2490:
2486:
2479:
2477:
2473:
2470:
2466:
2461:
2459:
2457:
2453:
2448:
2444:
2440:
2436:
2433:(3): 313–33.
2432:
2428:
2421:
2418:
2413:
2409:
2405:
2401:
2397:
2393:
2386:
2384:
2380:
2375:
2371:
2367:
2363:
2359:
2355:
2348:
2346:
2344:
2340:
2335:
2331:
2327:
2323:
2319:
2315:
2312:(2): 109–14.
2311:
2307:
2300:
2297:
2292:
2288:
2283:
2278:
2274:
2270:
2266:
2259:
2256:
2251:
2247:
2242:
2237:
2234:(6): 714–23.
2233:
2229:
2225:
2218:
2216:
2214:
2210:
2205:
2201:
2197:
2193:
2189:
2185:
2182:(5): 455–67.
2181:
2177:
2169:
2167:
2165:
2161:
2156:
2152:
2147:
2142:
2138:
2134:
2131:(6): 585–96.
2130:
2126:
2125:Lancet Neurol
2122:
2115:
2112:
2107:
2103:
2098:
2093:
2089:
2085:
2081:
2077:
2073:
2066:
2064:
2060:
2055:
2051:
2047:
2043:
2039:
2035:
2031:
2027:
2020:
2017:
2012:
2008:
2003:
1998:
1994:
1990:
1987:(6): 519–24.
1986:
1982:
1978:
1971:
1968:
1963:
1959:
1955:
1951:
1948:(2): 128–35.
1947:
1943:
1936:
1933:
1928:
1924:
1920:
1916:
1912:
1908:
1904:
1900:
1893:
1891:
1887:
1882:
1878:
1873:
1868:
1864:
1860:
1857:(10): 737–8.
1856:
1852:
1851:J. Med. Genet
1848:
1841:
1838:
1833:
1829:
1825:
1821:
1817:
1813:
1809:
1805:
1798:
1795:
1790:
1786:
1781:
1776:
1772:
1768:
1765:(9): 1580–6.
1764:
1760:
1756:
1749:
1746:
1741:
1737:
1733:
1729:
1725:
1721:
1717:
1713:
1706:
1703:
1698:
1694:
1690:
1686:
1681:
1676:
1672:
1668:
1664:
1657:
1655:
1653:
1651:
1647:
1642:
1638:
1634:
1630:
1626:
1622:
1618:
1614:
1607:
1605:
1601:
1596:
1589:
1586:
1581:
1577:
1575:9780323322850
1571:
1567:
1566:
1558:
1555:
1550:
1546:
1542:
1538:
1534:
1530:
1526:
1522:
1515:
1512:
1507:
1503:
1499:
1495:
1490:
1485:
1481:
1477:
1473:
1469:
1465:
1461:
1457:
1450:
1447:
1434:
1431:. July 2013.
1430:
1426:
1420:
1418:
1416:
1414:
1412:
1410:
1408:
1406:
1404:
1402:
1400:
1398:
1396:
1394:
1390:
1385:
1381:
1376:
1371:
1367:
1363:
1360:(10): 822–4.
1359:
1355:
1354:J. Med. Genet
1351:
1344:
1341:
1328:
1324:
1320:
1314:
1312:
1310:
1308:
1306:
1302:
1297:
1293:
1289:
1285:
1277:
1274:
1261:
1257:
1253:
1247:
1245:
1243:
1241:
1239:
1235:
1230:
1224:
1220:
1213:
1210:
1205:
1199:
1195:
1188:
1185:
1178:
1173:
1170:
1168:
1165:
1163:
1160:
1158:
1155:
1153:
1150:
1148:
1145:
1143:
1142:
1138:
1136:
1133:
1131:
1128:
1126:
1123:
1122:
1117:
1115:
1111:
1104:
1102:
1098:
1096:
1087:
1085:
1083:
1079:
1077:
1072:
1068:
1064:
1060:
1055:
1048:
1046:
1042:
1040:
1035:
1032:
1027:
1025:
1021:
1017:
1013:
1012:hybridization
1011:
1008:fluorescence
999:
992:
988:
983:
976:
974:
972:
968:
967:
962:
958:
957:
952:
948:
944:
934:
932:
928:
924:
920:
916:
912:
908:
904:
900:
895:
891:
889:
885:
878:
875:
873:
871:
867:
866:
858:
855:
853:
851:
847:
843:
842:aortic arches
839:
834:
832:
828:
824:
819:
817:
813:
809:
805:
801:
797:
796:
791:
787:
783:
779:
775:
771:
767:
763:
762:
757:
751:
748:
746:
742:
740:
734:
731:
727:
719:
714:
707:
705:
702:
698:
697:glottal stops
678:
673:
669:
667:
662:
658:
653:
651:
647:
643:
639:
635:
631:
627:
626:Hypernasality
623:
616:
614:
612:
608:
603:
601:
600:schizophrenia
597:
592:
585:
583:
581:
573:
570:
568:abnormalities
567:
564:
561:
557:
554:
551:
550:Schizophrenia
548:
545:
541:
538:
536:
533:
530:
527:
524:
521:
517:
516:sensorineural
513:
509:
506:
503:
500:
497:
493:
490:
487:
485:
481:
477:
474:
472:
471:hypertelorism
468:
464:
460:
457:, submucosal
456:
452:
449:
446:
443:
440:
436:
432:
428:
424:
421:
420:
418:
412:
409:
407:or hypoplasia
406:
402:
399:
395:
392:
388:
384:
380:
379:
378:
376:
371:
369:
368:schizophrenia
364:
362:
358:
354:
350:
344:
342:
338:
334:
330:
327:
323:
319:
315:
314:immune system
311:
307:
303:
294:
292:
290:
285:
282:
277:
275:
271:
267:
263:
259:
255:
251:
250:chromosome 22
247:
242:
240:
236:
232:
228:
224:
223:schizophrenia
220:
216:
212:
208:
204:
200:
199:chromosome 22
196:
192:
183:
179:
175:
173:
169:
166:
163:
159:
156:
152:
148:
144:
141:
139:
135:
132:
128:
126:
122:
118:
115:
111:
108:
104:
100:
97:
95:
94:Complications
91:
88:
84:
80:
78:
74:
71:
68:
66:
62:
57:
53:
48:
43:
39:
34:
19:
6633:Anthropology
6623:Deaf studies
6613:Crip as verb
6491:Mobility aid
6451:Reach Canada
6224:Social model
5641:
5603:
5515:TAR syndrome
5418:Tetrasomy 9p
5254:Lymphangitis
5168:Splenomegaly
5105:
4983:C1-inhibitor
4981:
4898:
4891:
4854:
4853:
4838:
4832:
4828:
4822:
4795:ICF syndrome
4058:Heritability
4048:Epidemiology
3977:
3956:
3930:
3919:
3908:
3897:
3886:
3869:
3858:
3834:
3823:
3812:
3793:
3778:
3763:
3734:
3733:
3721:. Retrieved
3712:
3703:
3668:
3664:
3654:
3642:. Retrieved
3633:
3609:. Retrieved
3600:
3591:
3579:. Retrieved
3570:
3561:
3544:
3540:
3534:
3499:
3495:
3485:
3450:
3446:
3436:
3427:
3418:
3405:
3396:
3361:
3357:
3347:
3336:. Retrieved
3332:
3323:
3311:. Retrieved
3301:
3282:
3276:
3239:
3235:
3225:
3192:
3188:
3181:
3144:
3140:
3130:
3095:
3091:
3081:
3064:
3060:
3054:
3017:
3013:
3003:
2968:
2964:
2916:
2912:
2890:
2881:
2849:(1): 39–48.
2846:
2842:
2832:
2799:
2795:
2788:
2755:
2751:
2745:
2720:
2716:
2709:
2674:
2670:
2660:
2627:
2623:
2578:
2574:
2564:
2529:
2525:
2515:
2488:
2430:
2426:
2420:
2395:
2391:
2357:
2353:
2309:
2305:
2299:
2272:
2268:
2258:
2231:
2227:
2179:
2175:
2128:
2124:
2114:
2079:
2075:
2032:(1): 21–37.
2029:
2025:
2019:
1984:
1980:
1970:
1945:
1941:
1935:
1902:
1898:
1854:
1850:
1840:
1807:
1803:
1797:
1762:
1758:
1748:
1715:
1711:
1705:
1670:
1666:
1619:(2): 77–85.
1616:
1612:
1594:
1588:
1564:
1557:
1524:
1520:
1514:
1463:
1459:
1449:
1437:. Retrieved
1428:
1357:
1353:
1343:
1331:. Retrieved
1322:
1290:(1): 56–62.
1287:
1283:
1276:
1264:. Retrieved
1255:
1218:
1212:
1193:
1187:
1139:
1112:
1108:
1099:
1091:
1088:Epidemiology
1080:
1056:
1052:
1043:
1036:
1028:
1009:
1004:
970:
964:
954:
950:
940:
915:hypoglycemia
898:
896:
892:
887:
881:
876:
863:
861:
856:
849:
845:
837:
835:
822:
820:
815:
811:
807:
803:
793:
769:
759:
754:
749:
743:
738:
735:
726:heterozygous
723:
672:Articulation
670:
654:
642:nasal cavity
624:
620:
604:
593:
589:
577:
560:hypocalcemia
508:Hearing loss
494:Significant
489:Hypocalcemia
463:cleft palate
459:cleft palate
416:
410:Cleft palate
374:
372:
365:
345:
341:parathormone
333:hypocalcemia
298:
286:
278:
257:
243:
227:hearing loss
215:cleft palate
194:
190:
189:
103:hearing loss
87:cleft palate
6706:Paralympics
6701:Deaflympics
6511:Prosthetics
6202:Main topics
5804:46,XX/46,XY
5721:tetrasomies
5667:Distal 18q-
5158:Polysplenia
5096:Hyperplasia
4855:peripheral:
4486:MMR vaccine
4214:Infodumping
4189:Monotropism
4184:Late talker
4149:Alexithymia
4053:Epigenetics
3978:GeneReviews
3957:GeneReviews
3899:GeneReviews
2360:(1): 90–6.
2275:(1): 72–8.
2076:JAMA Neurol
1673:(1): 1–18.
1067:antibiotics
903:β-oxidation
427:conotruncal
361:psychiatric
326:hypoplastic
41:Other names
6756:Categories
6696:Parasports
6233:Approaches
6209:Disability
6195:Disability
5799:45,X/46,XY
5699:Monosomies
5472:Trisomy 22
5450:Trisomy 18
5440:Trisomy 16
5388:including
5264:Lymphedema
5195:Lymph node
5101:Hypoplasia
4988:Angioedema
4974:deficiency
4972:Complement
4949:Leukopenia
4899:autosomal:
4653:complement
4496:Thiomersal
4438:Employment
4229:Echopraxia
4179:Hyperlexia
3988:. NBK3823.
3967:. NBK1523.
3888:Patient UK
3836:DiseasesDB
3723:2017-06-18
3665:J. Pediatr
3447:Genet. Med
3338:2018-10-30
3147:: 590298.
3092:Hum. Mutat
2752:Nat. Genet
2630:(1): 1–5.
2354:J. Pediatr
2269:Genet. Med
1179:References
1093:causes of
1082:Metirosine
1063:infections
786:mesenchyme
531:deficiency
512:conductive
310:infections
184:1 in 4,000
6643:Education
6638:Geography
6282:education
6245:Inclusion
5717:Trisomies
5494:Deletions
5413:Trisomy 9
5408:Trisomy 8
5390:trisomies
5378:Autosomal
4892:x-linked:
4501:Chelation
4224:Echolalia
4097:Diagnoses
4088:Therapies
4043:Diagnosis
3871:eMedicine
3644:26 August
3611:26 August
3581:26 August
3217:206905761
2196:1545-1569
1597:: 116–21.
1506:246664448
1480:2376-0605
1105:Etymology
1049:Treatment
1016:G-banding
977:Diagnosis
963:protein,
596:psychosis
467:Caucasian
396:Abnormal
266:inherited
256:known as
181:Frequency
172:Prognosis
161:Treatment
65:Specialty
6731:Category
6648:Journals
6628:Eugenics
6608:Bodymind
6415:Students
6362:Services
5839:Lymphoid
5831:lymphoma
5827:Leukemia
5141:Asplenia
4939:HIV/AIDS
4931:Acquired
4882:combined
4674:Antibody
4649:Lymphoid
4279:Epilepsy
4219:Stimming
3986:20301749
3965:20301696
3932:Orphanet
3882:derm/716
3717:Archived
3695:21570089
3638:Archived
3605:Archived
3575:Archived
3553:10706158
3526:14736631
3477:25569435
3410:Archived
3388:17284531
3268:21549014
3209:24893808
3173:24795887
3122:18033723
3046:18053182
2995:26805781
2943:26805782
2873:27892953
2843:Nat. Med
2824:41144744
2816:11242049
2780:21030663
2772:11242110
2737:10369860
2701:26508576
2652:35570263
2644:12548732
2605:18775783
2556:26372046
2507:12668595
2467:(OMIM):
2447:16702096
2412:10907715
2374:16027702
2334:12082383
2326:10926060
2291:11339384
2250:10581495
2204:11522167
2155:27017469
2106:24018986
2054:13520713
2046:15823981
2011:25267002
1962:11180220
1927:21395147
1919:11715041
1881:10528851
1832:40678533
1824:15653270
1789:12944331
1732:16545541
1697:27954882
1689:21200182
1641:25905258
1633:16645366
1580:Archived
1549:32595060
1541:17950858
1498:35959083
1433:Archived
1327:Archived
1325:. 2017.
1260:Archived
1118:See also
829:and the
720:pattern.
708:Genetics
677:phonemic
566:Skeletal
556:Seizures
445:Cyanosis
375:CATCH-22
268:. It is
262:mutation
254:location
233:such as
77:Symptoms
45:syndrome
6383:Support
6067:) t (1
5934:RUNX1T1
5909:Myeloid
5730:mosaics
5228:Tonsils
5118:Thymoma
5091:Abscess
4678:humoral
4665:Primary
4586:Schools
4063:History
3879:ped/589
3876:med/567
3830:D004062
3774:LD44.N0
3713:22q.org
3686:3197829
3517:1719787
3468:4526275
3379:1885498
3259:3114015
3164:3985206
3113:2664158
3037:2222674
3020:: 167.
2986:4746334
2934:4746337
2864:5218899
2692:4867458
2596:2729512
2547:4586411
2469:#188400
2146:4828586
2097:4464823
2002:4379129
1872:1734243
1780:3276594
1740:9999210
1489:9363511
1384:8230157
1375:1016562
1333:10 July
1045:10p14.
1010:in situ
870:miR-338
758:of the
739:de novo
634:palatal
546:numbers
496:feeding
451:Palatal
433:(50%),
405:aplasia
403:Thymic
258:22q11.2
151:VACTERL
117:Genetic
6300:Rights
6277:school
6019:COL1A1
5691:linked
5133:Spleen
5083:Thymus
4895:X-SCID
4879:Severe
4068:Memory
4038:Causes
4024:Autism
3984:
3963:
3860:Curlie
3819:188400
3808:758.32
3804:279.11
3693:
3683:
3551:
3524:
3514:
3475:
3465:
3386:
3376:
3313:22 May
3289:
3266:
3256:
3242:: 12.
3215:
3207:
3171:
3161:
3120:
3110:
3044:
3034:
2993:
2983:
2941:
2931:
2871:
2861:
2822:
2814:
2796:Nature
2778:
2770:
2735:
2699:
2689:
2650:
2642:
2603:
2593:
2554:
2544:
2505:
2445:
2410:
2372:
2332:
2324:
2289:
2248:
2202:
2194:
2153:
2143:
2104:
2094:
2052:
2044:
2009:
1999:
1960:
1925:
1917:
1879:
1869:
1830:
1822:
1787:
1777:
1738:
1730:
1695:
1687:
1639:
1631:
1572:
1547:
1539:
1521:Lancet
1504:
1496:
1486:
1478:
1439:15 May
1382:
1372:
1296:272242
1294:
1266:15 May
1225:
1200:
929:, and
899:TANGO2
890:gene.
888:TANGO2
884:TANGO2
877:TANGO2
831:thymus
790:stroma
544:T cell
510:(both
461:, and
398:facies
329:thymus
318:T cell
113:Causes
6741:Lists
6446:MINDS
6087:Other
6073:FOXO1
6071:; 13
6065:FOXO1
6063:; 13
6049:; 22
6045:t(11
6035:; 16
6033:DDIT3
6031:t(12
6023:PDGFB
6017:t(17
5993:; 22
5989:t(11
5980:Other
5962:RBM15
5946:t(15
5938:RUNX1
5922:; 22
5862:t(14
4885:(B+T)
4783:Other
4569:Lists
3789:D82.1
3358:Blood
3213:S2CID
2820:S2CID
2776:S2CID
2648:S2CID
2330:S2CID
2050:S2CID
1923:S2CID
1828:S2CID
1736:S2CID
1693:S2CID
1637:S2CID
1545:S2CID
1502:S2CID
1141:DGCR2
971:LRRK2
961:PARK2
956:SEPT5
951:DGCR8
947:LRRK2
911:Golgi
865:Dgcr8
857:DGCR8
804:FGF18
795:FGF18
774:T-box
638:velum
502:Renal
252:at a
246:genes
6420:CNIB
6405:SSDI
6400:Rail
6395:ODSP
6333:AODA
6069:PAX7
6061:PAX3
6059:t(2
6021:;22
6007:;18
6003:t(x
5991:FLI1
5966:MKL1
5964:;22
5960:t(1
5952:RARA
5950:,17
5936:;21
5932:t(8
5918:t(9
5894:NPM1
5888:t(2
5868:BCL2
5866:;18
5852:;14
5848:t(8
5232:see
4651:and
4031:Main
3982:PMID
3961:PMID
3921:GARD
3910:NORD
3841:3631
3825:MeSH
3814:OMIM
3799:9-CM
3691:PMID
3646:2015
3613:2015
3583:2015
3549:PMID
3522:PMID
3473:PMID
3384:PMID
3315:2020
3287:ISBN
3264:PMID
3205:PMID
3189:BJOG
3169:PMID
3145:2014
3118:PMID
3042:PMID
2991:PMID
2939:PMID
2869:PMID
2812:PMID
2768:PMID
2733:PMID
2697:PMID
2640:PMID
2628:117A
2601:PMID
2552:PMID
2503:PMID
2443:PMID
2408:PMID
2370:PMID
2322:PMID
2287:PMID
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