Cri du chat syndrome.

Abstract

C ri du chat ("cat's cry" in French) syndrome is a congenital, neurodevelopmental disorder that results from variable deletions of a region on the short arm of chromosome 5 (5P). The size of the 5P deletion can vary from the entire short arm to only 5P15. The condition was first described by Lejeune et al. (1963), who reported the presence of a high-pitched cry similar to the mewing of a cat, significant mental retardation, microcephaly, and a host of minor phenotypical anomalies in three unrelated children.