The frequency of aneuploidy among individual chromosomes in 6,821 human sperm chromosome complements

R. H. Martin*, Alfred W Rademaker

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

95 Scopus citations

Abstract

The human sperm hamster egg fusion technique has been used to analyse 6,821 human sperm chromosome complements from 98 men to determine if all chromosomes are equally likely to be involved in aneuploid events or if some chromosomes are particularly susceptible to nondisjunction. The frequency of hypohaploidy and hyperhaploidy was compared among different chromosome groups and individual chromosomes. In general. hypohaploid sperm complements were more frequent than hyperhaploid complements. The distribution of chromosome loss in the hypohaploid complements indicated that significantly fewer of the large chromosomes and significantly more of the small chromosomes were lost, suggesting that technical loss predominantly affects small chromosomes. Among the autosomes, the observed frequency of hyperhaploid sperm equalled the expected frequency (assuming an equal frequency of nondisjunction for all chromosomes) for all chromosome groups. Among individual autosomes. only chromosome 9 showed an increased frequency of hyperhaploidy. The sex chromosomes also showed a significant increase in the frequency of hyperhaploidy. These results are consistent with studies of spontaneous abortions and liveborns demonstrating that aneuploidy for the sex chromosomes is caused by paternal meiotic error more commonly than aneuploidy for the autosomes.

Original languageEnglish (US)
Pages (from-to)103-107
Number of pages5
JournalCytogenetic and Genome Research
Volume53
Issue number2-3
DOIs
StatePublished - Jan 1 1990

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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