Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin

A. Amiel, F. Sardos-Albertini, M. D. Fejgin, R. Sharony, R. Diukman, B. Bartoov

Research output: Contribution to journalArticlepeer-review

48 Scopus citations

Abstract

We describe a man with pericentric inversion 9 and constitutive heterochromatin, and a high disomy rate in his sperm cells (with all probes analyzed). The disomy rate was estimated with the following probes: 8, 9, 18, X, and Y, and was significantly higher than that in control sperm cells, while chromosome 9 showed the highest disomy frequency. The probes of X and Y together showed the same disomy frequency as X and Y alone, which indicates the same nondisjunction rate in the first meiotic division. We suggest that the interchromosomal effect found in this man differed from other findings in sperm cells of men carrying an inversion in terms of the difference in the length of the heterochromatin between the two chromosomes 9. Also, it is well known that the effect of inversion 9 with increased heterochromatin is highly variable and may even vary in members of the same family.

Original languageEnglish
Pages (from-to)245-250
Number of pages6
JournalJournal of Human Genetics
Volume46
Issue number5
DOIs
StatePublished - 2001

Keywords

  • Aneuploidy
  • Disomy
  • FISH
  • Heterochromatin
  • Interchromosomal effect
  • Inversion (9)

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