Terminal deletion of the short arm of chromosome 5

Clin Genet. 1988 Oct;34(4):219-23. doi: 10.1111/j.1399-0004.1988.tb02868.x.


Three cases of deletion of the short arm of chromosome 5 are described: one family cluster, in which the mother and three sons are affected, and two sporadics without the typical "cri du chat" phenotype (the family and Case 2 were previously reported in 1982). Mental retardation varied between affected members of the same family. Band p15.2 appears critical for the development of the complete phenotype. A peculiar deafness observed in the familial and one of the sporadic cases suggests a cochlear malformation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 5*
  • Cri-du-Chat Syndrome / genetics*
  • Female
  • Humans
  • Karyotyping
  • Male