Down syndrome with unusual chromosome translocation: case report and review

Ann Genet. 1996;39(4):240-2.

Abstract

We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11:q21), + der (5) t(5;21). The mother's karyotype was 46 XX, der (5) t(5,21) (q11:q21). The chromosome imbalance resulted from 3:1 meiotic segregation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosomes, Human, Pair 21*
  • Chromosomes, Human, Pair 5*
  • Down Syndrome / genetics*
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Meiosis / genetics
  • Translocation, Genetic*