Article
Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.
American journal of medical genetics. Part A - 1 Mar 2016
Zhang Bin, Willing Marcia, Grange Dorothy K, Shinawi Marwan, Manwaring Linda, Vineyard Marisa, Kulkarni Shashikant, Cottrell Catherine E
Abstract excerpt
Deletion of the short arm of chromosome 5 (5p-) is associated with phenotypic features including a cat-like cry in infancy, dysmorphic facial features, microcephaly, and intellectual disability, and when encompassing a minimal critical region, may be defined as Cri-du-Chat syndrome (CdCS). Most 5p deletions are de novo in origin, and familial cases are often associated with translocation and inversion. Herein, we...
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