Segmental Aneuploidy: Cri-du-Chat Syndrome

    Cri-du-Chat syndrome is the result of a segmental aneuploid deletion of the distal portion of the short arm (2n=46,5p-) of Chromosome 5. The phenotype includes a characteristic high-pitched cry ("cat cry"), low birth weight, poor muscle tone, microcephaly, and mental retardation. Children respond well to a home environment, plus occupational, speech, and physical therapies. Institutionalization is now less common than formerly.

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Abby Nichole Tanner

Abby, Nichole, & Tanner

Figure ©2002 by Griffiths et al.; all text material ©2014 by Steven M. Carr