DiGeorge syndrome - Knowledge (XXG)

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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.

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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.

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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".

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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

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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

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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

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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.

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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

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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

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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

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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

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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.

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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

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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

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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

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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

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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

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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.

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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.

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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

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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".

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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".

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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".

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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

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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.

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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.

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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".

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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".

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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".

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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.

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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: 6322: 4622: 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. 6435: 6332: 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. 5350: 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 6791: 6363: 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

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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).

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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:

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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".

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in Toronto, Canada, which provides children with 22q11 deletion syndrome ongoing support, medical care and information from a team of health care workers.

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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

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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

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Horowitz A, Shifman S, Rivlin N, Pisanté A, Darvasi A (2005). "A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients".

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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 6766: 6668: 5135: 5011: 4513: 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. 6751: 5207: 4713: 4570: 1226: 1201: 5278: 6394: 4077: 2569:

Maynard TM, Meechan DW, Dudevoir ML, Gopalakrishna D, Peters AZ, Heindel CC, Sugimoto TJ, Wu Y, Lieberman JA, Lamantia AS (November 2008).

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for correct formation and remodelling of the aortic arches has been extensively studied in various mouse models suggesting the key role of

4523: 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".

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DiGeorge, A (1968). "Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism".

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deficits) at the onset of language development are also part of the speech and language profile associated with the 22q11.2 deletion.

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Adults with DiGeorge syndrome are a specifically high-risk group for developing schizophrenia. About 30% have at least one episode of

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Kobrynski LJ, Sullivan KE (October 2007). "Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes".

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difficulty when presented with language tasks such as verbally recalling narratives and producing longer and more complex sentences.

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Genetic testing using BACs-on-Beads has been successful in detecting deletions consistent with 22q11.2DS during prenatal testing.

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Muldoon M, Ousley OY, Kobrynski LJ, Patel S, Oster ME, Fernandez-Carriba S, Cubells JF, Coleman K, Pearce BD (September 2015).

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special classes. The severity of hypocalcemia early in childhood is associated with autism-like behavioral difficulties.

6399: 5941: 5933: 5889: 5581: 5456: 5434: 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" 6404: 6379: 6208: 6132: 6120: 5500: 5387: 5305: 5197: 4871: 4723: 4690: 4508: 4288: 4153: 454: 5577: 5573: 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:

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Result of FISH analysis using LSI probe (TUPLE 1) from DiGeorge/velocardiofacial syndrome critical region. TUPLE 1 (

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DiGeorge syndrome occurs in about 1 in 4,000 people. The syndrome was first described in 1968 by American physician

6796: 6776: 6673: 6465: 6301: 6213: 6161: 5879: 4396: 4361: 4341: 4293: 969:, which is involved in regulating dopamine levels, and microRNA miR-185, which is thought to target known PD locus 5642: 4837: 6786: 6389: 6244: 6046: 6008: 5807: 4857: 4752: 4747: 4742: 4737: 4732: 4667: 4465: 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: 6566: 6541: 5496: 4906: 4654: 4539: 4366: 3824: 2750:

Jerome LA, Papaioannou VE (March 2001). "DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1".

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Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, Missirian C, Le Caignec C, et al. (June 2016).

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allow for careful monitoring of the patients. An example of this type of system is the 22q Deletion Clinic at

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the long arm (q) of chromosome 22, region 1, band 1, sub-band 2. Genetic analysis is normally performed using

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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 6680: 6627: 6622: 6551: 6062: 6054: 6040: 6026: 5984: 5905: 5617: 5006: 4991: 4987: 4485: 4470: 4457: 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:

García-Herrero S, Campos-Galindo I, Martínez-Conejero JA, Serra V, Olmo I, Lara C, Simón C, Rubio C (2014).

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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

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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".

6254: 6136: 5263: 4981: 4961: 4682: 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 6116: 6112: 679:

inventory typically produced consists of sounds made in the front or back of the oral cavity such as:

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gene (T-box transcription factor TBX1) is thought to be the cause of some of the symptoms observed.

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Microdeletions in chromosomal region 22q11.2 are associated with a 20 to 30-fold increased risk of

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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: 5032: 6607: 6510: 6460: 6271: 6102: 5719: 5638: 5561: 5549: 5090: 5080: 5063: 4813: 4798: 4642: 4565: 4490: 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

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Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J (October 1993).

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Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS (March 2008).

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Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, et al. (May 2007).

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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).

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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.

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of the face and palate, the outflow tract of the heart, and the thymus and parathyroid

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Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, et al. (2016).

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Chun S, Du F, Westmoreland JJ, Han SB, Wang YD, Eddins D, et al. (January 2017).

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Robin NH, Shprintzen RJ (2005). "Defining the clinical spectrum of deletion 22q11.2".

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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: 6612: 6480: 6440: 5771: 5678: 5674: 5554: 5542: 5526: 5514: 5504: 5407: 5243: 5157: 4972: 4784: 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

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Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R (2003).

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for cardiovascular development and the phenotypes seen in DiGeorge syndrome.

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Miller, Kimberley A. (2008). "FISH Diagnosis of 22q11.2 Deletion Syndrome".

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10.1002/(SICI)1096-8628(19991215)88:6<714::AID-AJMG24>3.0.CO;2-B

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in this gene have also been observed in individuals with DiGeorge syndrome.

729: 595: 309: 171: 5328: 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. 6617: 5870: 5820: 5816: 5688: 5367: 5130: 4928: 4663: 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: 6296: 5923: 5706: 5379: 5217: 5107: 3103: 869: 633: 450: 404: 150: 17: 3756: 5122: 5072: 4803: 4672: 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

6343:

International Classification of Functioning, Disability and Health

6012: 5951: 5927: 5857: 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).

6058: 6050: 5994: 5980: 5955: 5883: 5853: 5843: 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

6157: 5332: 5036: 4611: 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

5839: 3624: 3622: 312:. Infections are common in children due to problems with the 6153: 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

6762:

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

6333:

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 6646: 6580: 6519: 6453: 6418: 6372: 6351: 6315: 6289: 6282: 6222: 6191: 6076: 5969: 5898: 5828: 5815: 5806: 5705: 5687: 5673: 5482: 5375: 5366: 5234: 5183: 5121: 5071: 4960: 4937: 4919: 4867: 4797: 4772: 4704: 4681: 4662: 4653: 4584: 4558: 4532: 4501: 4456: 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. 6338:Declaration on the Rights of Disabled Persons 6169: 6098:46,XX testicular disorders of sex development 5344: 5048: 4623: 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 ( 5920:Acute myeloblastic leukemia with maturation 2168: 2166: 2164: 1157:Characteristics of syndromic ASD conditions 989:) probe was labeled in Spectrum Orange and 6726: 6527:Augmentative and alternative communication 6286: 6176: 6162: 6154: 5825: 5812: 5684: 5372: 5351: 5337: 5329: 5055: 5041: 5033: 4848:Purine nucleoside phosphorylase deficiency 4696:Transient hypogammaglobulinemia of infancy 4678: 4659: 4630: 4616: 4608: 4550: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: 6792:Syndromes with craniofacial abnormalities 4252:Avoidant/restrictive food intake disorder 3684: 3515: 3490:Oskarsdóttir 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 6562:Disproportionality in special education 4433: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 ( 5136:Asplenia with cardiovascular anomalies 5012:Terminal complement pathway deficiency 4514: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 5208: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 6757:IUIS-PID table 3 immunodeficiencies 6669:Disability in children's literature 6033:Desmoplastic small-round-cell tumor 5017: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 6772:Autosomal monosomies and deletions 6532: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: 4524: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 6725: 6716: 6715: 5606:22q11.2 distal deletion syndrome 5311:Postmastectomy lymphangiosarcoma 5279:Lymphedema–distichiasis syndrome 4780: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 6005:Dermatofibrosarcoma protuberans 5948:Acute megakaryoblastic leukemia 5876:Anaplastic large-cell lymphoma 5538:Chromosome 5q deletion syndrome 4952:Idiopathic CD4+ lymphocytopenia 3719:from the original on 2017-06-10 552:develops in 25-30% by adulthood 6547:Disability and LGBT identities 5224:Template:Respiratory pathology 5022:Complement receptor deficiency 4892:Adenosine deaminase deficiency 4545: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: 6767:Syndromes affecting the heart 6359:Services for mental disorders 5728:Klinefelter syndrome (47,XXY) 5493:1q21.1 copy number variations 4519: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 6752:Autosomal dominant disorders 6364:Services for disabled people 5934:Acute promyelocytic leukemia 5890:Acute lymphoblastic leukemia 5582:17q12 microdeletion syndrome 5457:22q11.2 duplication syndrome 5435:16p11.2 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, 6647:Arts, media, culture, sport 5501:1q21.1 duplication syndrome 5388:1q21.1 duplication syndrome 5306:Postinflammatory lymphedema 5198:Generalized lymphadenopathy 5066:: organ and vessel diseases 4691:X-linked agammaglobulinemia 4509: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 6813: 6674:Disability in horror films 6466: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 6782:Syndromes affecting teeth 6711: 6047:Alveolar rhabdomyosarcoma 5782:XYYYY syndrome (49,XYYYY) 5748:XXXXY syndrome (49,XXXXY) 5743:XXXYY syndrome (49,XXXYY) 4466: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: 6567:Sexuality and disability 6542:Disability and disasters 6454:Structural and assistive 5522:Wolf–Hirschhorn syndrome 5497:1q21.1 deletion syndrome 5360:Chromosome abnormalities 4907:Bare lymphocyte syndrome 4759:Wiskott–Aldrich syndrome 4540: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) 6681:Disability in the media 6552:Disability and religion 6491:Personal Care Assistant 5906:Philadelphia chromosome 5777:XYYY syndrome (48,XYYY) 5738:XXXY syndrome (48,XXXY) 5733:XXYY syndrome (48,XXYY) 5618:22q13 deletion syndrome 5393:2q31.1 microduplication 5007:Complement 3 deficiency 4992:Complement 4 deficiency 4988:Complement 2 deficiency 4471: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 6664:Disability in the arts 6557:Disability and poverty 6496:Physical accessibility 5765:Pentasomy X (49,XXXXX) 5697:Turner syndrome (45,X) 5578:Smith–Magenis syndrome 5574:Miller–Dieker syndrome 5509:1p36 deletion syndrome 4481:Rapid prompting method 4428: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 6255:driver rehabilitation 5772:XYY syndrome (47,XYY) 5760:Tetrasomy X (48,XXXX) 5643:Prader–Willi syndrome 5264:Congenital lymphedema 4982:Hereditary angioedema 4838:Ataxia–telangiectasia 4683:Hypogammaglobulinemia 4566: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 6588:Models of disability 6572:Youth and disability 6537:Invisible disability 6486:Orthotics and braces 6471:Assistive technology 6283:Rights, law, support 5864:Mantle cell lymphoma 5534:Cri du chat syndrome 5301:Factitial lymphedema 5291:Secondary lymphedema 5002:Properdin deficiency 4823:Di George's syndrome 4706:Dysgammaglobulinemia 4571: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 6240:Learning disability 5850:Follicular lymphoma 5203:Castleman's disease 4448: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 6654:Disability culture 6581:Disability studies 6476:Independent living 6204:Disability studies 6089:Uniparental disomy 6084:Fragile X syndrome 6019:Myxoid liposarcoma 5871:t(11 CCND1:14 IGH) 5755:Trisomy X (47,XXX) 5633:genomic imprinting 5413:Distal trisomy 10q 5296:Bullous lymphedema 5269:Lymphedema praecox 5259:Primary lymphedema 5170:Splenic infarction 4854:Hyper IgM syndrome 4764:Hyper-IgE syndrome 4729:Hyper IgM syndrome 4645: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 6797:Medical mnemonics 6777:Genetic anomalies 6739: 6738: 6608:Neuroqueer theory 6511:Web accessibility 6461:Accessible toilet 6449: 6448: 6302:Disability rights 6297:Ableism/disablism 6151: 6150: 6103:Marker chromosome 6072: 6071: 5965: 5964: 5802: 5801: 5669: 5668: 5639:Angelman syndrome 5594:DiGeorge syndrome 5562:Jacobsen syndrome 5550:Williams syndrome 5326: 5325: 5236:Lymphatic vessels 5096:DiGeorge syndrome 5064:Lymphatic disease 5030: 5029: 4915: 4914: 4814:thymic hypoplasia 4799:T cell deficiency 4793: 4792: 4605: 4604: 4502: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 6804: 6787:Syndromic autism 6729: 6728: 6719: 6718: 6701:Special Olympics 6593:Inspiration porn 6506:Universal design 6307:Pejorative terms 6287: 6250:Physical therapy 6178: 6171: 6164: 6155: 6094:XX male syndrome 5991:Synovial sarcoma 5868:Multiple myeloma 5836:Burkitt lymphoma 5826: 5813: 5716:other karyotypes 5685: 5467:Cat-eye syndrome 5373: 5353: 5346: 5339: 5330: 5318:Waldmann disease 5284:Milroy's disease 5274:Lymphedema tarda 5249:Lymphangiectasia 5163:Banti's syndrome 5153:Wandering spleen 5143:Accessory spleen 5113:Thymic carcinoma 5057: 5050: 5043: 5034: 4902:ZAP70 deficiency 4833:Nezelof syndrome 4679: 4660: 4647:immunodeficiency 4632: 4625: 4618: 4609: 4597:Sensory friendly 4533: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: 6812: 6811: 6807: 6806: 6805: 6803: 6802: 6801: 6742: 6741: 6740: 6735: 6707: 6642: 6576: 6515: 6445: 6419:Activist groups 6414: 6368: 6347: 6311: 6278: 6218: 6187: 6182: 6152: 6147: 6108:Ring chromosome 6068: 5961: 5894: 5798: 5714: 5701: 5665: 5478: 5377: 5362: 5357: 5327: 5322: 5230: 5213:Kikuchi disease 5193:Lymphadenopathy 5179: 5117: 5067: 5061: 5031: 5026: 4963: 4956: 4944:Lymphocytopenia 4942: 4933: 4911: 4887: 4874: 4863: 4819:hypoparathyroid 4801: 4789: 4768: 4700: 4670: 4649: 4636: 4606: 4601: 4592:Autism-friendly 4580: 4554: 4528: 4497: 4452: 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: 6810: 6808: 6800: 6799: 6794: 6789: 6784: 6779: 6774: 6769: 6764: 6759: 6754: 6744: 6743: 6737: 6736: 6734: 6733: 6723: 6712: 6709: 6708: 6706: 6705: 6704: 6703: 6698: 6693: 6683: 6678: 6677: 6676: 6671: 6661: 6659:Disability art 6656: 6650: 6648: 6644: 6643: 6641: 6640: 6635: 6630: 6625: 6620: 6615: 6610: 6605: 6600: 6595: 6590: 6584: 6582: 6578: 6577: 6575: 6574: 6569: 6564: 6559: 6554: 6549: 6544: 6539: 6534: 6529: 6523: 6521: 6517: 6516: 6514: 6513: 6508: 6503: 6498: 6493: 6488: 6483: 6478: 6473: 6468: 6463: 6457: 6455: 6451: 6450: 6447: 6446: 6444: 6443: 6438: 6433: 6428: 6422: 6420: 6416: 6415: 6413: 6412: 6407: 6402: 6397: 6392: 6387: 6382: 6376: 6374: 6370: 6369: 6367: 6366: 6361: 6355: 6353: 6349: 6348: 6346: 6345: 6340: 6335: 6330: 6325: 6319: 6317: 6313: 6312: 6310: 6309: 6304: 6299: 6293: 6291: 6284: 6280: 6279: 6277: 6276: 6275: 6274: 6269: 6259: 6258: 6257: 6247: 6242: 6237: 6232: 6226: 6224: 6220: 6219: 6217: 6216: 6211: 6206: 6201: 6195: 6193: 6189: 6188: 6183: 6181: 6180: 6173: 6166: 6158: 6149: 6148: 6146: 6145: 6144: 6143: 6105: 6100: 6091: 6086: 6080: 6078: 6074: 6073: 6070: 6069: 6067: 6066: 6044: 6030: 6016: 6002: 5988: 5973: 5971: 5967: 5966: 5963: 5962: 5960: 5959: 5945: 5931: 5917: 5902: 5900: 5896: 5895: 5893: 5892: 5887: 5873: 5861: 5847: 5832: 5830: 5823: 5810: 5808:Translocations 5804: 5803: 5800: 5799: 5797: 5796: 5791: 5785: 5784: 5779: 5774: 5768: 5767: 5762: 5757: 5751: 5750: 5745: 5740: 5735: 5730: 5724: 5722: 5703: 5702: 5700: 5699: 5693: 5691: 5682: 5671: 5670: 5667: 5666: 5664: 5663: 5653: 5652: 5651: 5650: 5628: 5627: 5626: 5625: 5615: 5614: 5613: 5603: 5602: 5601: 5591: 5590: 5589: 5571: 5570: 5569: 5559: 5558: 5557: 5547: 5546: 5545: 5531: 5530: 5529: 5519: 5518: 5517: 5488: 5486: 5480: 5479: 5477: 5476: 5475: 5474: 5464: 5459: 5454: 5453: 5452: 5442: 5437: 5432: 5427: 5426: 5425: 5418:Patau syndrome 5415: 5410: 5405: 5400: 5395: 5390: 5384: 5382: 5370: 5364: 5363: 5358: 5356: 5355: 5348: 5341: 5333: 5324: 5323: 5321: 5320: 5315: 5314: 5313: 5308: 5303: 5298: 5288: 5287: 5286: 5281: 5276: 5271: 5266: 5256: 5251: 5246: 5240: 5238: 5232: 5231: 5229: 5228: 5227: 5226: 5215: 5210: 5205: 5200: 5195: 5189: 5187: 5181: 5180: 5178: 5177: 5172: 5167: 5166: 5165: 5155: 5150: 5145: 5140: 5139: 5138: 5127: 5125: 5119: 5118: 5116: 5115: 5110: 5105: 5103:Ectopic thymus 5100: 5099: 5098: 5088: 5083: 5077: 5075: 5069: 5068: 5062: 5060: 5059: 5052: 5045: 5037: 5028: 5027: 5025: 5024: 5019: 5014: 5009: 5004: 4999: 4997:MBL deficiency 4994: 4985: 4968: 4966: 4958: 4957: 4955: 4954: 4948: 4946: 4935: 4934: 4932: 4931: 4925: 4923: 4917: 4916: 4913: 4912: 4910: 4909: 4904: 4899: 4897:Omenn syndrome 4894: 4878: 4876: 4865: 4864: 4862: 4861: 4842: 4841: 4835: 4826: 4809: 4807: 4795: 4794: 4791: 4790: 4788: 4787: 4782: 4776: 4774: 4770: 4769: 4767: 4766: 4761: 4756: 4750: 4745: 4740: 4735: 4726: 4724:IgM deficiency 4721: 4719:IgG deficiency 4716: 4714:IgA deficiency 4710: 4708: 4702: 4701: 4699: 4698: 4693: 4687: 4685: 4676: 4657: 4651: 4650: 4637: 4635: 4634: 4627: 4620: 4612: 4603: 4602: 4600: 4599: 4594: 4588: 4586: 4585:Accommodations 4582: 4581: 4579: 4578: 4573: 4568: 4562: 4560: 4556: 4555: 4553: 4552: 4547: 4542: 4536: 4534: 4530: 4529: 4527: 4526: 4521: 4516: 4511: 4505: 4503: 4499: 4498: 4496: 4495: 4494: 4493: 4483: 4478: 4473: 4468: 4462: 4460: 4454: 4453: 4451: 4450: 4445: 4443:TEACCH program 4440: 4438:Neurodiversity 4435: 4430: 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: 6809: 6798: 6795: 6793: 6790: 6788: 6785: 6783: 6780: 6778: 6775: 6773: 6770: 6768: 6765: 6763: 6760: 6758: 6755: 6753: 6750: 6749: 6747: 6732: 6724: 6722: 6714: 6713: 6710: 6702: 6699: 6697: 6694: 6692: 6689: 6688: 6687: 6684: 6682: 6679: 6675: 6672: 6670: 6667: 6666: 6665: 6662: 6660: 6657: 6655: 6652: 6651: 6649: 6645: 6639: 6636: 6634: 6631: 6629: 6626: 6624: 6621: 6619: 6616: 6614: 6611: 6609: 6606: 6604: 6601: 6599: 6596: 6594: 6591: 6589: 6586: 6585: 6583: 6579: 6573: 6570: 6568: 6565: 6563: 6560: 6558: 6555: 6553: 6550: 6548: 6545: 6543: 6540: 6538: 6535: 6533: 6530: 6528: 6525: 6524: 6522: 6520:Social issues 6518: 6512: 6509: 6507: 6504: 6502: 6499: 6497: 6494: 6492: 6489: 6487: 6484: 6482: 6479: 6477: 6474: 6472: 6469: 6467: 6464: 6462: 6459: 6458: 6456: 6452: 6442: 6439: 6437: 6434: 6432: 6429: 6427: 6424: 6423: 6421: 6417: 6411: 6408: 6406: 6403: 6401: 6398: 6396: 6393: 6391: 6388: 6386: 6383: 6381: 6378: 6377: 6375: 6371: 6365: 6362: 6360: 6357: 6356: 6354: 6350: 6344: 6341: 6339: 6336: 6334: 6331: 6329: 6326: 6324: 6321: 6320: 6318: 6314: 6308: 6305: 6303: 6300: 6298: 6295: 6294: 6292: 6288: 6285: 6281: 6273: 6270: 6268: 6265: 6264: 6263: 6262:Special needs 6260: 6256: 6253: 6252: 6251: 6248: 6246: 6245:Mainstreaming 6243: 6241: 6238: 6236: 6233: 6231: 6228: 6227: 6225: 6221: 6215: 6212: 6210: 6209:Medical model 6207: 6205: 6202: 6200: 6197: 6196: 6194: 6190: 6186: 6179: 6174: 6172: 6167: 6165: 6160: 6159: 6156: 6142: 6138: 6134: 6130: 6126: 6122: 6118: 6114: 6111: 6110: 6109: 6106: 6104: 6101: 6099: 6095: 6092: 6090: 6087: 6085: 6082: 6081: 6079: 6075: 6064: 6060: 6056: 6052: 6048: 6045: 6042: 6038: 6034: 6031: 6028: 6024: 6020: 6017: 6014: 6010: 6006: 6003: 6000: 5996: 5992: 5989: 5986: 5982: 5978: 5977:Ewing sarcoma 5975: 5974: 5972: 5968: 5957: 5953: 5949: 5946: 5943: 5939: 5935: 5932: 5929: 5925: 5921: 5918: 5915: 5911: 5907: 5904: 5903: 5901: 5897: 5891: 5888: 5885: 5881: 5877: 5874: 5872: 5869: 5865: 5862: 5859: 5855: 5851: 5848: 5845: 5841: 5837: 5834: 5833: 5831: 5827: 5824: 5822: 5818: 5814: 5811: 5809: 5805: 5795: 5792: 5790: 5787: 5786: 5783: 5780: 5778: 5775: 5773: 5770: 5769: 5766: 5763: 5761: 5758: 5756: 5753: 5752: 5749: 5746: 5744: 5741: 5739: 5736: 5734: 5731: 5729: 5726: 5725: 5723: 5721: 5717: 5712: 5708: 5704: 5698: 5695: 5694: 5692: 5690: 5686: 5683: 5680: 5676: 5672: 5662: 5661:Proximal 18q- 5658: 5655: 5654: 5648: 5644: 5640: 5637: 5636: 5635: 5634: 5630: 5629: 5624: 5621: 5620: 5619: 5616: 5612: 5609: 5608: 5607: 5604: 5600: 5597: 5596: 5595: 5592: 5588: 5585: 5584: 5583: 5579: 5575: 5572: 5568: 5565: 5564: 5563: 5560: 5556: 5553: 5552: 5551: 5548: 5544: 5541: 5540: 5539: 5535: 5532: 5528: 5525: 5524: 5523: 5520: 5516: 5513: 5512: 5510: 5506: 5502: 5498: 5494: 5490: 5489: 5487: 5485: 5481: 5473: 5470: 5469: 5468: 5465: 5463: 5460: 5458: 5455: 5451: 5448: 5447: 5446: 5445:Down syndrome 5443: 5441: 5438: 5436: 5433: 5431: 5428: 5424: 5421: 5420: 5419: 5416: 5414: 5411: 5409: 5406: 5404: 5401: 5399: 5396: 5394: 5391: 5389: 5386: 5385: 5383: 5381: 5376:Duplications, 5374: 5371: 5369: 5365: 5361: 5354: 5349: 5347: 5342: 5340: 5335: 5334: 5331: 5319: 5316: 5312: 5309: 5307: 5304: 5302: 5299: 5297: 5294: 5293: 5292: 5289: 5285: 5282: 5280: 5277: 5275: 5272: 5270: 5267: 5265: 5262: 5261: 5260: 5257: 5255: 5252: 5250: 5247: 5245: 5242: 5241: 5239: 5237: 5233: 5225: 5221: 5220: 5219: 5216: 5214: 5211: 5209: 5206: 5204: 5201: 5199: 5196: 5194: 5191: 5190: 5188: 5186: 5182: 5176: 5175:Splenic tumor 5173: 5171: 5168: 5164: 5161: 5160: 5159: 5156: 5154: 5151: 5149: 5146: 5144: 5141: 5137: 5134: 5133: 5132: 5129: 5128: 5126: 5124: 5120: 5114: 5111: 5109: 5106: 5104: 5101: 5097: 5094: 5093: 5092: 5089: 5087: 5084: 5082: 5079: 5078: 5076: 5074: 5070: 5065: 5058: 5053: 5051: 5046: 5044: 5039: 5038: 5035: 5023: 5020: 5018: 5015: 5013: 5010: 5008: 5005: 5003: 5000: 4998: 4995: 4993: 4989: 4986: 4983: 4979: 4975: 4974: 4970: 4969: 4967: 4965: 4959: 4953: 4950: 4949: 4947: 4945: 4940: 4936: 4930: 4927: 4926: 4924: 4922: 4918: 4908: 4905: 4903: 4900: 4898: 4895: 4893: 4890: 4886: 4883: 4880: 4879: 4877: 4873: 4870: 4866: 4859: 4855: 4852: 4851: 4850: 4849: 4846: 4839: 4836: 4834: 4830: 4829:euparathyroid 4827: 4824: 4820: 4817: 4815: 4811: 4810: 4808: 4805: 4800: 4796: 4786: 4783: 4781: 4778: 4777: 4775: 4771: 4765: 4762: 4760: 4757: 4754: 4751: 4749: 4746: 4744: 4741: 4739: 4736: 4734: 4730: 4727: 4725: 4722: 4720: 4717: 4715: 4712: 4711: 4709: 4707: 4703: 4697: 4694: 4692: 4689: 4688: 4686: 4684: 4680: 4677: 4674: 4669: 4665: 4661: 4658: 4656: 4652: 4648: 4644: 4640: 4633: 4628: 4626: 4621: 4619: 4614: 4613: 4610: 4598: 4595: 4593: 4590: 4589: 4587: 4583: 4577: 4574: 4572: 4569: 4567: 4564: 4563: 4561: 4557: 4551: 4548: 4546: 4543: 4541: 4538: 4537: 4535: 4531: 4525: 4522: 4520: 4517: 4515: 4512: 4510: 4507: 4506: 4504: 4500: 4492: 4489: 4488: 4487: 4484: 4482: 4479: 4477: 4474: 4472: 4469: 4467: 4464: 4463: 4461: 4459: 4458:Controversies 4455: 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: 6623:Anthropology 6613:Deaf studies 6603:Crip as verb 6481:Mobility aid 6441:Reach Canada 6214:Social model 5631: 5593: 5505:TAR syndrome 5408:Tetrasomy 9p 5244:Lymphangitis 5158:Splenomegaly 5095: 4973:C1-inhibitor 4971: 4888: 4881: 4844: 4843: 4828: 4822: 4818: 4812: 4785:ICF syndrome 4058:Heritability 4048:Epidemiology 3977: 3956: 3930: 3919: 3908: 3897: 3886: 3869: 3858: 3834: 3823: 3812: 3793: 3778: 3763: 3734: 3733: 3721:. 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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 6696:Paralympics 6691:Deaflympics 6501:Prosthetics 6192:Main topics 5794:46,XX/46,XY 5711:tetrasomies 5657:Distal 18q- 5148:Polysplenia 5086:Hyperplasia 4845:peripheral: 4476: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 6746:Categories 6686:Parasports 6223:Approaches 6199:Disability 6185:Disability 5789:45,X/46,XY 5689:Monosomies 5462:Trisomy 22 5440:Trisomy 18 5430:Trisomy 16 5378:including 5254:Lymphedema 5185:Lymph node 5091:Hypoplasia 4978:Angioedema 4964:deficiency 4962:Complement 4939:Leukopenia 4889:autosomal: 4643:complement 4486:Thiomersal 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 6633:Education 6628:Geography 6272:education 6235:Inclusion 5707:Trisomies 5484:Deletions 5403:Trisomy 9 5398:Trisomy 8 5380:trisomies 5368:Autosomal 4882:x-linked: 4491: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 6721:Category 6638:Journals 6618:Eugenics 6598:Bodymind 6405:Students 6352:Services 5829:Lymphoid 5821:lymphoma 5817:Leukemia 5131:Asplenia 4929:HIV/AIDS 4921:Acquired 4872:combined 4664:Antibody 4639: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:. 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