Reproductive risk in mating between two translocation carriers: case report and review of the literature

Am J Med Genet. 1993 Jun 15;46(5):524-8. doi: 10.1002/ajmg.1320460513.

Abstract

We conducted a study to determine the reproductive risk in a couple who were translocation carriers. This couple, who carried balanced reciprocal translocations, experienced habitual abortions. The wife had a karyotype of 46,XX,t(7;13)(p15.3;q12.3) and the husband of 46,XY,t(1;7)(p11.1;p11.1). Chromosome study of their fourth abortus demonstrated a chimera consisting of two cell lines with a 46,XY and a 46,XX,t(1;7)(p11.1;p11.1)pat, -13, + der(7)t(7;13)(p15.3;q12.3)mat, karyotype. A review of the literature indicates that the risk of having unbalanced live offspring or of spontaneous abortion/stillborns is similar in couples in whom both were translocation carriers and in couples in whom one individual was a translocation carrier. The apparent lack of increased reproductive failure may result from the selective disadvantage of aneusomic gametes at fertilization or very early spontaneous abortions of unbalanced conceptuses.

Publication types

  • Review

MeSH terms

  • Abortion, Habitual / genetics*
  • Adult
  • Chimera
  • Chromosome Banding
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 7
  • Female
  • Fetal Death / genetics
  • Heterozygote*
  • Humans
  • Karyotyping
  • Male
  • Pedigree
  • Pregnancy
  • Pregnancy Outcome / genetics*
  • Risk Factors
  • Translocation, Genetic*