Article
Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2008
Murru D, Boccone L, Ristaldi M S, Nucaro A L
Abstract excerpt
The Cri du Chat Syndrome (CdCS) is one of the most common deletion syndromes, involving the short arm of chromosome 5, with an incidence of 1 in 50.000 live births. The following are the characteristic features of this syndrome: microcephaly, hypertelorism, round face, micrognatia, epicanthic folds, prominent nasal bridge, hypotonia and severe psychomotor retardation. Patients also show a high pitched cry similar...
Topics
- Child
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 5
- Craniofacial Abnormalities
- Cri-du-Chat Syndrome
- Gene Duplication
- Humans
- In Situ Hybridization, Fluorescence
- Male