Insertional translocations: report of two new families and review of the literature

Am J Med Genet. 1988 Oct;31(2):319-29. doi: 10.1002/ajmg.1320310209.

Abstract

We describe two families with insertional translocations. In the first, a large family ascertained because of repeated pregnancy loss, the insertional translocation, ins(1;3)(q32;p13pter), was found to be segregating through three generations. In the second family, ascertained through a proposita with congenital malformations, multiple spontaneous abortions also occurred. The father had an insertional translocation, inv 4(p14,q21.1)ins(7,4)(q32;q21.1 q23). These cases illustrate that recurrent fetal wastage may be caused by insertional translocations and in fact may be the only clinical manifestation of this unusual type of chromosome rearrangement.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 3*
  • Chromosomes, Human, Pair 4*
  • Chromosomes, Human, Pair 7*
  • DNA Transposable Elements*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Pedigree
  • Translocation, Genetic*

Substances

  • DNA Transposable Elements