Evidence for a Distinct Region Causing a Cat-Like Cry in Patients With 5p Deletions

摘要: The cri-du-chat syndrome is a contiguous gene that results from deletion of the short arm chromosome 5 (5p). Patients present with cat-like cry at birth, which usually considered diagnostic this syndrome. Additional features include failure to thrive, microcephaly, hypertelorism, epicanthal folds, hypotonia, and severe mental retardation. We report on four families in patients 5p deletions have only characteristic cry, normal mildly delayed development. precise locations each family were determined by FISH using lambda phage cosmid clones. All breakpoints map distal chromosomal region implicated facial developmental delay DNA clones mapping associated feature will be useful tools. They allow for distinction between result observed most those isolated feature, better prognosis.