Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei

Hum Genet. 2000 May;106(5):500-5. doi: 10.1007/s004390000295.

Abstract

We have used dual color fluorescence in situ hybridization (FISH) on decondensed sperm heads from four carriers of structural chromosome reorganizations, viz. t(3;15), t(Y;7), t(13;22) and inv(9), to assess the possible existence of an interchromosomal effect (ICE) on the segregation of chromosome 21. In the carriers of t(Y;7), t(13;22) and inv(9), all results were within the limits described in controls. A highly significant increase (P<0.0001) of disomy 21 (1.90% v 0.37%), which could be considered as a positive ICE, was observed in the t(3;15) carrier. Significantly higher percentages (P<0.0001) of diploid sperm (5.71% v. 0.27%) were also observed in this patient. Our results suggests that the occurrence of an ICE may depend on the reorganization and on the chromosome and chromosome regions involved, resulting in a particular meiotic behaviour (presence of unsynapsed regions, preferential meiotic configurations) that could lead to the observed increase in chromosome 21 disomies. Further studies with this technical approach in a wide range of structural reorganizations could help to elucidate the actual occurrence of ICEs.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aneuploidy
  • Cell Nucleus / genetics
  • Chromosome Aberrations*
  • Chromosome Inversion
  • Chromosomes, Human, Pair 21 / genetics*
  • Down Syndrome / genetics
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infertility, Male / genetics
  • Male
  • Middle Aged
  • Spermatozoa / ultrastructure*
  • Translocation, Genetic