Analysis of chromosome segregation in sperm from a chromosome 2 inversion heterozygote and assessment of an interchromosomal effect

Monica M. Mikhaail-Philips, Evelyn Ko, Judy Chernos, Calvin Greene, Alfred Rademaker, Renée H. Martin*

*Corresponding author for this work

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

Using fluorescence in situ hybridization (FISH) analysis, the chromosome segregation of a pericentric inversion of chromosome 2 was studied in spermatozoa. An interchromosomal effect (ICE) was also determined for chromosomes 13, 21, X, and Y. This chromosome inversion included more than 2/3 of the total length of the chromosome and the breaks points were in G-light bands. The frequency of non-recombinant sperm was 55.9%, and that of recombinant sperm was 34.5% (with a 1:1 ratio of duplication of the p arm and deletion of the q arm and vice versa). There was a significantly increased frequency of disomy for chromosome 2 (0.6%) compared to the other autosomes, suggesting that pairing and recombination of the inversion may predispose to nondisjunction. There was no significant difference between the frequencies of aneuploidy for chromosomes 13, 21, X, and Y for the chromosome inversion heterozygote compared to control donors. Thus we did not find evidence for an ICE.

Original languageEnglish (US)
Pages (from-to)139-143
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume127 A
Issue number2
StatePublished - Jun 1 2004

Keywords

  • Chromosome inversions
  • Fluorescence in situ hybridization (FISH)
  • Interchromosomal effect
  • Pericentric inversions
  • Recombinant chromosomes
  • Sperm chromosome analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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