Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome

J Med Genet. 1978 Apr;15(2):154-7. doi: 10.1136/jmg.15.2.154.

Abstract

An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosomes, Human, 1-3
  • Chromosomes, Human, 13-15
  • Chromosomes, Human, 4-5*
  • Cri-du-Chat Syndrome / genetics*
  • Humans
  • Male
  • Sex Chromosomes*
  • Translocation, Genetic*
  • Y Chromosome*