Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations

Hum Genet. 1997 Jun;99(6):806-15. doi: 10.1007/s004390050453.

Abstract

We report an unusual case of a balanced reciprocal translocation with a recombinant chromosome which has arisen from a familial balanced complex translocation. Fluorescence in situ hybridization studies were essential for the identification of the breakpoints. A review of 60 cases of balanced complex translocations (BCT) has revealed three cases similar to ours. Carriers of BCT have a high risk of having spontaneous abortions or a child with an unbalanced karyotype. Certain types of balanced rearrangements involving an insertion can give rise to a simpler balanced translocation as a result of crossover. Our observations support the assumption that the chance that a de novo balanced complex translocation is associated with an abnormal phenotype increases with the number of breakpoints.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abortion, Habitual / genetics
  • Adult
  • Chromosome Banding
  • Chromosomes, Human, Pair 2
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Infertility, Male / genetics
  • Karyotyping
  • Male
  • Pedigree
  • Pregnancy
  • Recombination, Genetic*
  • Translocation, Genetic*