Balanced reciprocal translocation mosaicism: new cases and a literature review

Am J Med Genet. 1991 Sep 1;40(3):345-7. doi: 10.1002/ajmg.1320400321.

Abstract

Mosaicism for a balanced reciprocal translocation is uncommon. These two new cases were detected during investigation of infertility and miscarriages. Otherwise, the probands were normal. Of five previously described cases, only one was possibly syndromal. More reports of this class of chromosomal aberration are needed to assess accurately the risk of phenotypic abnormalities.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosomes, Human, Pair 18
  • Chromosomes, Human, Pair 3
  • Chromosomes, Human, Pair 5
  • Chromosomes, Human, Pair 6
  • Female
  • Humans
  • Male
  • Mosaicism
  • Translocation, Genetic*