Translocation t(13;14) in nine generations with a case of translocation homozygosity

Clin Genet. 1988 Feb;33(2):83-6. doi: 10.1111/j.1399-0004.1988.tb03415.x.

Abstract

The Robertsonian translocation 5(13;14)(p11;q11) was studied in three families with probable common ancestry in Eastern Finland. In the largest family the translocation has segregated through at least nine generations. The same family also included a female who was homozygous for t(13;14). No clear-cut effect of the translocation on fertility could be demonstrated and only one case of trisomy 13 was recorded in the offspring of t(13;14) carriers. The results are discussed, with implication for human chromosomal evolution.

MeSH terms

  • Abortion, Spontaneous / etiology
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 14*
  • Female
  • Finland
  • Genetic Carrier Screening
  • Homozygote*
  • Humans
  • Karyotyping
  • Male
  • Pedigree
  • Pregnancy
  • Translocation, Genetic*
  • Trisomy