A 2-year-old child has been followed for mental retardation and slow development, as well as multiple bih defects. The child has a high-pitched catlike cry. On examination, microcephaly, hypeelorism, micrognathia, epicanthal folds, low-set ears, and hypotonia are noted. Karyotypic analysis would be expected to show
The clinical presentation is that of the cri du chat (or 5p-) syndrome. Cri du chat Paial deletion of the sho arm of chromosome 5 Ho-pitched catlike cry Microcephaly, Hypeelorism, Micrognathia, Epicanthal folds, Low-set ears, Hypotonia
5p-
22q11-
45,XO
46,XY
Genetics