Hereditary 3;6 translocation : three cases of multiple malformations with partial trisomy 6p21 leads to pter

Ann Genet. 1980;23(3):173-5.

Abstract

The authors report on a family with a t(3;6). All four members of a sibship were carriers of the balanced translocation and two have had children with multiple malformations. The proband, six months old, had the karyotype 46,XY, t(3;6) (p26;p21) der pat. His clinical features were typical of the trisomy 6p syndrome. HLA typing data failed demonstrate both paternal haplotypes in the propositus.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 6-12 and X*
  • Humans
  • Infant
  • Translocation, Genetic*
  • Trisomy*