[Reverse type of cri du chat disease: 5 p trisomy].
Five patients with a trisomy of the main part of the short arm of a chromosome 5 represented with the clinical picture of the reversetype of the Cri-du-chat syndrome. Its main features are the spurt of gonions, prominent chin, prominent nose root, subnormal skull perimeter, low I.Q. and muscular hypotonia.
D000293:Adolescent; D000328:Adult; D002680:Chin / Q000002:abnormalities; D002905:Chromosomes, Human, 4-5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007621:Karyotyping; D008297:Male; D008334:Mandible / Q000002:abnormalities; D010375:Pedigree; D012026:Reflex, Stretch; D014314:Trisomy
Le contretype de la maladie du cri du chat: la trisomie 5 p