Reciprocal translocation t(5;6)(p13;q27) through three generations: case report of cri du chat syndrome

Hum Genet. 1980 Feb;53(2):145-7. doi: 10.1007/BF00273485.

Abstract

A male infant with cri du chat syndrome was found to have a deletion of the short arm of No. 5 chromosome and which was due to maternal reciprocal translocation t(5;6)(p13;q27). His elder sister and his grandfather were also identified as the translocation carriers.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, 4-5*
  • Chromosomes, Human, 6-12 and X*
  • Cri-du-Chat Syndrome / genetics*
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Translocation, Genetic*