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Chromosomal Abnormalities in Human Sperm

  • Chapter
Aneuploidy

Part of the book series: Basic Life Sciences ((BLSC,volume 36))

Summary

The ability to analyze human sperm chromosome complements after penetration of zona pellucida-free hamster eggs provides the first opportunity to study the frequency and type of chromosomal abnormalities in human gametes. Two large-scale studies have provided information on normal men. We have studied 1,426 sperm complements from 45 normal men and found an abnormality rate of 8.9%. Brandriff et al. (5) found 8.1% abnormal complements in 909 sperm from 4 men. The distribution of numerical and structural abnormalities was markedly dissimilar in the 2 studies. The frequency of aneuploidy was 5% in our sample and only 1.6% in Brandriff’s, perhaps reflecting individual variability among donors. The frequency of 2.4,YY sperm was low: 0/1,426 and 1/909. This suggests that the estimates of nondisjunction based on fluorescent Y body data (1% to 5%) are not accurate.

We have also studied men at increased risk of sperm chromosomal abnormalities. The frequency of chromosomally unbalanced sperm in 6 men heterozygous for structural abnormalities varied dramatically: 77% for t11;22, 32% for t6; 14, 19% for t5;18, 13% for t14;21, and 0% for inv 3 and 7. We have also studied 13 cancer patients before and after radiotherapy and demonstrated a significant dose-dependent increase of sperm chromosome abnormalities (numerical and structural) 36 months after radiation treatment.

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Author information

Authors and Affiliations

  1. Genetics Department, University of Calgary and Alberta Children’s Hospital, 1820 Richmond Road, Calgary, Alberta, T2T 5C7, Canada

    Renee H. Martin

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  1. Renee H. Martin
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Editor information

Editors and Affiliations

  1. U.S. Environment Protection Agency, Washington, D.C, USA

    Vicki L. Dellarco  & Peter E. Voytek  & 

  2. Council for Research Planning in Biological Sciences, Inc., Washington,D.C, USA

    Alexander Hollaender

  3. University of Alabama, Birmingham, Alabama, USA

    B. R. Brinkley

  4. New York State Department of Health, Albany, New York, USA

    Ernest B. Hook

  5. Duke University School of Medicine, Durham, North Carolina, USA

    Montrose J. Moses

  6. National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA

    Frederick J. de Serres

  7. M. D. Anderson Hospital and Tumor Institute, Houston, Texas, USA

    T. C. Hsu

  8. Oak Ridge National Laboratory, Oak Ridge, Tennessee, USA

    Liane B. Russell

  9. Brookhaven National Laboratory, Upton, New York, USA

    Raymond R. Tice

  10. U.S. Environmental Protection Agency Research Triagle Park, North Carolina, USA

    Michael D. Waters

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© 1985 Plenum Press, New York

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Martin, R.H. (1985). Chromosomal Abnormalities in Human Sperm. In: Dellarco, V.L., et al. Aneuploidy. Basic Life Sciences, vol 36. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-2127-9_6

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  • DOI: https://doi.org/10.1007/978-1-4613-2127-9_6

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4612-9257-9

  • Online ISBN: 978-1-4613-2127-9

  • eBook Packages: Springer Book Archive

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