Interchromosomal effect: Report of a father and son, bearing different translocations of the same chromosome, and a review of the current literature

Andrologia. 2021 Feb;53(1):e13805. doi: 10.1111/and.13805. Epub 2020 Aug 30.

Abstract

Interchromosomal effect is a controversial phenomenon postulating that during gametogenesis of translocation carriers, aside from the unbalanced segregation of chromosomes involved in the translocation, other, structurally normal chromosomes might also be affected and segregated abnormally. Here, we present a balanced reciprocal translocation carrier t(15;20)(q11;p13), and his son, bearing a different translocation of chromosome 15, t(15;Y)(q11;q12). To further elucidate the so-far-controversial interchromosomal effect phenomenon, published original articles and case reports about interchromosomal effect were reviewed. The father was a carrier of t(15;20)(q11;p13). His wife's karyotype was normal. During a pregnancy occurred without any preceding procedure, amniocentesis was recommended to the family and performed. Result of the amniocentesis revealed a different translocation of chromosome 15; t(15;Y)(q11;q12). To our knowledge, this is the first report of two generations within a family, bearing different translocations of a chromosome. On top of all previous studies investigating ICE, our case adds an important finding, showing not only the rate of aneuploidies of structurally normal chromosomes, but also the rate of this 'alternating translocations' might be increased in translocation carriers, and this could be an important clue about interchromosomal effects.

Keywords: ICE; aneuploidy; infertility; interchromosomal effect; translocation.

Publication types

  • Review

MeSH terms

  • Chromosomes, Human, Y
  • Fathers*
  • Female
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Pregnancy
  • Spermatozoa*
  • Translocation, Genetic