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Chromosome abnormalities and gamete production in man
1Istituto di Biologia Generale e Genetica Medica, Università di Pavia, Italy.
Differentiation; Research in Biological Diversity
|January 1, 1983
Summary
Chromosome abnormalities affect about 5% of infertile males, primarily sex chromosome issues. Balanced translocations and X chromosome aberrations significantly impact fertility by disrupting meiosis and gamete production.
Area of Science:
- Genetics
- Reproductive Biology
- Human Genetics
Background:
- Chromosome abnormalities are observed in approximately 5% of infertile males.
- Sex chromosome abnormalities account for 4% and autosomal abnormalities for 1% of these cases.
- Ascertainment bias may explain variations in reported frequencies.
Purpose of the Study:
- To review the incidence and types of chromosome abnormalities in infertile males.
- To discuss the mechanisms by which translocations affect meiosis.
- To examine the impact of X chromosome aberrations on female fertility.
Main Methods:
- Review of existing literature on chromosomal abnormalities in infertility.
- Analysis of frequencies of sex chromosome and autosomal abnormalities.
- Discussion of meiotic interference and X chromosome structural/numerical aberrations.
Main Results:
- Autosomal abnormalities, mainly balanced translocations (9 per 1000), are frequent in infertile males.
- Robertsonian translocations are common, often familial.
- X chromosome deficiencies, including those from X/autosome translocations, are linked to fertility issues.
Conclusions:
- Balanced translocations can interfere with normal meiotic processes.
- The function of an abnormal X chromosome, not just segment loss, is likely key to gamete production failure.
- Understanding these aberrations is crucial for diagnosing and managing infertility.