Chromosomal breakage in human spermatozoa, a heterozygous effect of the bloom syndrome mutation

Renée H. Martin*, Alfred Rademaker, James German

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

The chromosome complements of 662 spermatozoa produced by the three fathers of individuals with Bloom syndrome (BS) were analyzed to determine whether the BS mutation could affect chromosome segregation and the frequency of aneuploidy in sperm. The frequency of numerical abnormalities was not significantly different from that in normal controls studied in our laboratory, but the frequencies of structural abnormalities were significantly increased in two of the men, 14.3% and 15.9%, versus 8.6% in controls. More striking was the increase in these two men of cells with multiple structural abnormalities: 8.1% and 6.7% with multiple abnormalities, versus 2.3% in controls.

Original languageEnglish (US)
Pages (from-to)1242-1246
Number of pages5
JournalAmerican journal of human genetics
Volume55
Issue number6
StatePublished - Dec 1994

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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