The Cri du Chat Syndrome is associated with a partial deletion of the short arm of chromosome 5.
(1) The phenotypic frequency is around 1 in 25,000 to 50,000, while the frequency of occult microdeletions is higher.
(2) Most cases are caused by de novo deletions, with a few cases due to malsegregation of a balanced translocation in one of the parents.
(3) The critical region for the phenotype is at 5p15 (p15.2 to p15.3)
(1) catlike, mewing cry due to a congenital laryngeal defect
(3) round, moonlike facies
(5) epicanthal folds
(6) broad nasal bridge
(7) muscular hypotonia
(1) cardiac malformations
(2) failure to thrive and severe developmental delay
(3) mental retardation and slow language development
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