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Exceptionally, some with Cri du chat are very high-functioning and do not seem very different from developmentally typical individuals, with mostly the exception of mild learning difficulties, and do not have speech difficulties, although they may have milder facial features and a high-pitched voice
548:
cases. Loss of a small region in band 5p15.2 (cri du chat critical region) correlates with all the clinical features of the syndrome with the exception of the catlike cry, which maps to band 5p15.3 (catlike critical region). The results suggest that 2 noncontiguous critical regions contain genes
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Once the child has survived the first few years of life, the prognosis is good and the mortality level is low. In a series of case reports, the mortality rate was about 10%, with 75% of deaths occurring within 3 months of birth, and 90% within the 1st year.
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It has also been observed that people with the condition have difficulties communicating. While levels of proficiency can range from a few words to short sentences, it is often recommended by medical professionals for the child to undergo some sort of
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development. Intensive treatment is rarely needed in infants and they can be treated in neonatal pathology departments. Children may be treated by speech, physical and occupational therapists. If infants have difficulty in suction or swallowing, then
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where the 5p monosomy is often accompanied by a trisomic portion of the genome. These individuals may have more severe disease than those with isolated monosomy of 5p. A recent study suggests this may not be the case where a
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Diagnosis is based on the distinctive cry and accompanying physical problems. These common symptoms are quite easily observed in infants. Affected children are typically diagnosed by a doctor at birth.
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Most cases involve total loss of the most distal 10–20% of the material on the short arm. Fewer than 10% of cases have other rare cytogenetic aberrations (e.g., interstitial deletions,
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may be offered to families with individuals who have cri du chat syndrome. Prenatally the deletion of the cri du chat related region in the
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in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.
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Sheth, Frenny; Gohel, Naresh; Liehr, Thomas; Akinde, Olakanmi; Desai, Manisha; Adeteye, Olawaleye; Sheth, Jayesh (2012-01-01).
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There is not a specific way to treat the condition as the brain damage caused by this condition occurs in the early stages of
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should begin in the first weeks of life. Heart abnormalities often require surgical correction and specialist attention.
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242:. About one third of children lose the cry by age of 2 years. Other symptoms of cri du chat syndrome may include:
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561:(hTERT) gene localized in 5p15.33 may contribute to the phenotypic changes in cri du chat syndrome as well.
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and menstruate at the usual time. The genital tract is usually normal in females, except for a report of a
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The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a
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739:"Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome"
518:" or "partial monosomy." Approximately 90% of cases result from a sporadic, or randomly occurring,
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Facial features of a person with Cri du chat syndrome at the age of 8 months (A), 2 years (B),
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behavioural problems such as hyperactivity, aggression, outbursts and repetitive movements;
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Late childhood and adolescence findings include significant intellectual disability,
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557:(CTNND2), are potentially involved in cerebral development. The deletion of the
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translocations). The deleted chromosome 5 is paternal in origin in about 80% of
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with BACs-on-Beads technology. G-banded karyotype of a carrier is also useful.
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deletion. The remaining 10–15% are due to unequal segregation of a parental
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662:"Cri du Chat Syndrome - NORD (National Organization for Rare Disorders)"
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Cri du chat syndrome is due to a partial deletion of the short arm of
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involved in this condition's cause. Two genes in these regions,
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Lejeune J, Lafourcade J, Berger R, et al. (1963). "".
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unusual facial features, which may change over time;
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49:. Unsourced material may be challenged and removed.
475:, deep-set eyes, hypoplastic nasal bridge, severe
265:severe cognitive, speech and motor disabilities;
666:NORD (National Organization for Rare Disorders)
1801:46,XX testicular disorders of sex development
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369:Less frequently encountered findings include
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208:") referring to the characteristic cat-like
1623:Acute myeloblastic leukemia with maturation
471:, coarsening of facial features, prominent
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448:of the second and third fingers and toes,
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109:Learn how and when to remove this message
494:. In males, testes are often small, but
486:Affected females reach puberty, develop
456:. The syndrome may also include various
196:due to a partial chromosome deletion on
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1882:Syndromes affecting the nervous system
827:Cerruti Mainardi, Paola (2006-09-05).
366:/aid with the help of a professional.
7:
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358:is not associated with Cri du chat.
47:adding citations to reliable sources
1736:Desmoplastic small-round-cell tumor
212:of affected children (sound sample
1867:Autosomal monosomies and deletions
412:, rare renal malformations (e.g.,
14:
833:Orphanet Journal of Rare Diseases
310:, a round face with full cheeks,
1309:22q11.2 distal deletion syndrome
559:telomerase reverse transcriptase
23:
1708:Dermatofibrosarcoma protuberans
1651:Acute megakaryoblastic leukemia
1579:Anaplastic large-cell lymphoma
1241:Chromosome 5q deletion syndrome
138:Chromosome 5p deletion syndrome
34:needs additional citations for
533:of chromosome 4q is involved.
306:Other common findings include
1:
1431:Klinefelter syndrome (47,XXY)
1196:1q21.1 copy number variations
712:Chen, Harold (Apr 21, 2015).
488:secondary sex characteristics
215:). It was first described by
1637:Acute promyelocytic leukemia
1593:Acute lymphoblastic leukemia
1285:17q12 microdeletion syndrome
1160:22q11.2 duplication syndrome
1138:16p11.2 duplication syndrome
638:"Learning About Cri du Chat"
246:feeding problems because of
1887:Syndromes with microcephaly
1204:1q21.1 duplication syndrome
1091:1q21.1 duplication syndrome
338:and cardiac defects (e.g.,
234:, due to problems with the
163:4 years (C) and 9 years (D)
127:Cri du chat, or Cri-du-chat
1903:
514:number 5, also called "5p
1750:Alveolar rhabdomyosarcoma
1485:XYYYY syndrome (49,XYYYY)
1451:XXXXY syndrome (49,XXXXY)
1446:XXXYY syndrome (49,XXXYY)
498:is thought to be normal.
340:ventricular septal defect
160:
151:
1225:Wolf–Hirschhorn syndrome
1200:1q21.1 deletion syndrome
1063:Chromosome abnormalities
743:Case Reports in Genetics
502:due to their condition.
348:patent ductus arteriosus
248:difficulty in swallowing
1609:Philadelphia chromosome
1480:XYYY syndrome (48,XYYY)
1441:XXXY syndrome (48,XXXY)
1436:XXYY syndrome (48,XXYY)
1321:22q13 deletion syndrome
1096:2q31.1 microduplication
592:chorionic villi samples
454:hyper extensible joints
16:Human medical condition
1877:Rare genetic syndromes
1468:Pentasomy X (49,XXXXX)
1400:Turner syndrome (45,X)
1281:Smith–Magenis syndrome
1277:Miller–Dieker syndrome
1212:1p36 deletion syndrome
846:10.1186/1750-1172-1-33
829:"Cri du Chat syndrome"
797:"Cri-du-chat Syndrome"
714:"Cri-du-chat Syndrome"
526:balanced translocation
390:intestinal malrotation
58:"Cri du chat syndrome"
1475:XYY syndrome (47,XYY)
1463:Tetrasomy X (48,XXXX)
1346:Prader–Willi syndrome
586:can be detected from
336:single palmar creases
326:, down-turned mouth,
1567:Mantle cell lymphoma
1237:Cri du chat syndrome
1009:Cri du chat syndrome
462:single palmar crease
371:cleft lip and palate
344:atrial septal defect
292:widely-spaced eyes (
204:term ("cat-cry" or "
190:Cri du chat syndrome
183:Chromosomal Mutation
43:improve this article
1553:Follicular lymphoma
756:10.1155/2012/153405
473:supraorbital ridges
438:talipes equinovarus
352:tetralogy of Fallot
1792:Uniparental disomy
1787:Fragile X syndrome
1722:Myxoid liposarcoma
1574:t(11 CCND1:14 IGH)
1458:Trisomy X (47,XXX)
1336:genomic imprinting
1116:Distal trisomy 10q
973:External resources
572:Genetic counseling
316:palpebral fissures
223:Signs and symptoms
144:Lejeune's syndrome
1854:
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1806:Marker chromosome
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1505:
1504:
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1371:
1342:Angelman syndrome
1297:DiGeorge syndrome
1265:Jacobsen syndrome
1253:Williams syndrome
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1028:
492:bicornuate uterus
414:horseshoe kidneys
375:preauricular tags
302:in front of ears.
187:
186:
121:Medical condition
119:
118:
111:
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1797:XX male syndrome
1694:Synovial sarcoma
1571:Multiple myeloma
1539:Burkitt lymphoma
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1516:
1419:other karyotypes
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1170:Cat-eye syndrome
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687:C. R. Acad. Sci.
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609:physical therapy
314:, down-slanting
312:epicanthal folds
262:and poor growth;
260:low birth weight
200:. Its name is a
194:genetic disorder
174:Medical genetics
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496:spermatogenesis
458:dermatoglyphics
450:oligosyndactyly
402:dislocated hips
398:inguinal hernia
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206:call of the cat
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1872:Rare syndromes
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1121:Patau syndrome
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892:Classification
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884:External links
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642:www.genome.gov
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406:cryptorchidism
364:speech therapy
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240:nervous system
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217:Jérôme Lejeune
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1148:Down syndrome
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1079:Duplications,
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805:. 9 June 2017
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48:
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1208:TAR syndrome
1111:Tetrasomy 9p
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693:: 3098–102.
690:
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669:. Retrieved
665:
656:
645:. Retrieved
641:
632:
618:
601:
584:chromosome 5
568:
545:
541:
540:, rings and
535:
519:
509:
500:
485:
477:malocclusion
469:microcephaly
466:
430:clinodactyly
368:
360:
328:low-set ears
324:nasal bridge
305:
283:microcephaly
281:small head (
250:and sucking;
226:
198:chromosome 5
189:
188:
141:5p− syndrome
105:
96:
86:
79:
72:
65:
53:
41:Please help
36:verification
33:
1497:46,XX/46,XY
1414:tetrasomies
1360:Distal 18q-
982:MedlinePlus
410:hypospadias
356:Infertility
318:(eyelids),
285:) and jaw (
132:Other names
1861:Categories
1492:45,X/46,XY
1392:Monosomies
1165:Trisomy 22
1143:Trisomy 18
1133:Trisomy 16
1081:including
1004:Patient UK
958:DiseasesDB
749:: 153405.
723:2015-12-09
671:2015-12-10
647:2015-12-10
624:References
538:mosaicisms
512:chromosome
446:syndactyly
442:pes planus
320:strabismus
274:excessive
192:is a rare
69:newspapers
1410:Trisomies
1187:Deletions
1106:Trisomy 9
1101:Trisomy 8
1083:trisomies
1071:Autosomal
993:eMedicine
855:1750-1172
809:25 August
765:2090-6544
615:Prognosis
598:Treatment
565:Diagnosis
481:scoliosis
394:megacolon
386:dysplasia
308:hypotonia
300:skin tags
169:Specialty
99:July 2011
1532:Lymphoid
1524:lymphoma
1520:Leukemia
1015:Orphanet
873:16953888
802:Medscape
783:23320207
718:Medscape
699:14095841
516:monosomy
506:Genetics
422:agenesis
379:fistulas
276:drooling
1760:) t (1
1627:RUNX1T1
1602:Myeloid
1423:mosaics
998:ped/504
952:D003410
864:1574300
774:3539376
546:de novo
542:de novo
531:trisomy
521:de novo
432:of the
322:, flat
229:meowing
83:scholar
1712:COL1A1
1384:linked
987:001593
941:123450
930:758.31
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604:embryo
383:thymic
254:mutism
236:larynx
232:kitten
202:French
180:Causes
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1766:FOXO1
1764:; 13
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1631:RUNX1
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1611:t(9
1587:NPM1
1581:t(2
1561:BCL2
1559:;18
1545:;14
1541:t(8
947:MeSH
936:OMIM
925:9-CM
869:PMID
851:ISSN
811:2017
779:PMID
761:ISSN
747:2012
695:PMID
574:and
479:and
452:and
377:and
238:and
62:news
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1740:WT1
1730:FUS
1702:SSX
1698:SYT
1688:EWS
1641:PML
1617:BCR
1613:ABL
1585:;5
1583:ALK
1557:IGH
1547:IGH
1543:MYC
1020:281
921:ICD
906:ICD
859:PMC
841:doi
769:PMC
751:doi
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590:or
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