Case Report

Syndrome of short arm deletion of chromosome 5 (Cri du Chat): a case report

  • Vural Kesik
  • Sebahattin Vurucu
  • Mustafa Kul
  • Erkan Demirkaya
  • Rıdvan Akın
  • Davut Gül
  • Erdal Gökçay

Received Date: 06.06.2005 Accepted Date: 26.10.2005 Gulhane Med J 2006;48(1):40-42

Cri du Chat Syndrome results from a deletion on the short arm of chromosome 5 (5p-). Clinical features include a high pitched monochromatic cry, facial dysmorphism, microcephaly, and severe psychomotor and mental retardation. Its incidence ranges between 1:15000 to 1:50000 live births. Recent cytogenetic and phenotypic studies have shown a clinical and cytogenetic variability. Identification of cytogenetic map of chromosome 5 allows early rehabilitation programs. It should be kept in mind that early rehabilitation and educational interventions improve the prognosis. We herein report a 9-year-old girl with Cri du Chat syndrome.

Keywords: Deletion, mental retardation, chromosome 5