The Cri du Chat Syndrome is associated with a partial deletion of the short arm of chromosome 5.


Genetic features:

(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)


Newborn features:

(1) catlike, mewing cry due to a congenital laryngeal defect

(2) microcephaly

(3) round, moonlike facies

(4) hypertelorism

(5) epicanthal folds

(6) broad nasal bridge

(7) muscular hypotonia

(8) strabismus


Other findings:

(1) cardiac malformations

(2) failure to thrive and severe developmental delay

(3) mental retardation and slow language development


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