Open AccessCri du chat syndrome: A series of five cases
Author(s) -
Harsha M Dangare,
Samuel Philip Oommen,
Amisha N Sheth,
Beena Koshy,
Reeba Roshan,
Maya Thomas,
Sumita Danda,
Vivi M. Srivastava
Publication year - 2012
Publication title -
indian journal of pathology and microbiology/indian journal of pathology and microbiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.217
H-Index - 31
eISSN - 0974-5130
pISSN - 0377-4929
DOI - 10.4103/0377-4929.107791
Subject(s) - microcephaly , fluorescence in situ hybridization , chromosome , phenotype , biology , genetics , medicine , bioinformatics , gene
The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH) analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome.