iGen3 16-04

Cri-du-Chat Syndrome

Cri-du-Chat syndrome is the result of a segmental aneuploid deletion of a portion of the short arm (2n=46,5p-) of Chromosome 5 [see karyotype]. Symptoms include a characteristic high-pitched cry ("cat cry"), low birth weight, poor muscle tone, microcephaly, and mental retardation. Children respond well to the home environment, and institutionalization is now less common.

See [http://www.fivepminus.org/photos.htm#]


Figure 2010 PJ Russell, iGenetics 3rd ed.; all text material 2013 by Steven M. Carr