Report of three patients with Cri du Chat syndrome and 5p deletion

The cri du chat syndrome results from a total or partial deletion in the short arm of the chromosome 5. Its incidence is from 1:20,000 to 1:50,000 live births. Patients with CdCS show large phenotype variability due to the size of the chromosome portion deleted.In this report we describe three male patients with symptoms of CdCS , referred during1389 and 1392. The samples were studied using standard GTG banding technique. For each patient, 15 metaphases at 450-550 band resolution were studied.The cytogenetic investigation revealed deletion at 5p14 in two patients at the age of 14 and 5 months and the third patienthad a deletion at 5p13 and was 15 months of age. All of three patients have developmental delay, dysmorphism,micrognathia and simian crease. Microcephaly,feeding problem, epicanthal fold is present in two of the patients with del(5)p13 and del(5)p14. Hypertelorism, round face, and motor delay are present in patients with del(5)p13 and del(5)p14. Cardiac defect, hypotonia, dysmorphic face and cat like sound is present in only the infant with del(5)p14.Features of Cri Du Chat syndrome were variable because of heterogeneous phenotypic presentations. There is a positivecorrelation between the severity of the clinical features and the size of the deletion. Because of the variability in clinical presentations in CdCS, cytogenetic study is necessary to establish the deletion of critical region for the Cri Du Chat in the short arm of chromosome 5. However, in negative results, molecular cytogenetics techniques such as FISH is highly recommended

کلیدواژه ها:

Cri Du Chat Syndrome ، 5p deletion ، clinical heterogeneity