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Cri-du-chat Syndrome, Microdeletion 5p15.2

Mikrodeletion 5p15.2

Clinical Features

The Cri-du-chat syndrome is characterized by a high-pitched cat-like cry of the affected infants. Children with this chromosomal abnormality are born with reduced weight (2600g on average). Additional features include craniofacial abnormalities (microbrachycephaly, round face, hypertelorism, micrognathia, epicanthal folds); hypotonia; malformations of the inner organs such as heart defects; bony malformations such as pes equinovarus adductus, cleft palate or syndactylies. Mental and psychomotor retardation is severe. With increasing age the characteristic facial appearance changes into a narrow, often asymmetric face. Scoliosis and premature ageing are observed.

Genetic Information

The Cri-du-chat syndrome is based on a structural chromosomal abnormality in the short arm of chromosome 5. In the majority of cases a telomeric deletion with breakpoint at band 5p15.2 is found. However, the size of the deletion is variable and affects the clinical phenotype. Furthermore, interstitial deletions and translocations are described.

Prevalence

1 : 50 000

Diagnostic