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Chromosomes and human infertility. I. Mitotic and meiotic chromosome studies in 202 consecutive male patients
Author(s) -
Koulischer Lucien,
Schoysman Robert
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb01673.x
Subject(s) - meiosis , aneuploidy , klinefelter syndrome , somatic cell , male infertility , autosome , biology , chromosome , infertility , chromosomal translocation , genetics , mitosis , abnormality , karyotype , sperm , sterility , andrology , medicine , pregnancy , endocrinology , gene , psychiatry
Mitotic and meiotic chromoqome studies in 202 consecutive infertile male patients are reported. From our results and those available from the literature, the following conclusions can be drawn. 1. Mitotic chromosome analysis definitely must be included in the laboratory investigations of male infertility; meiotic studies are recommended, especially in patients with a normal somatic karyo‐type and unexplained low sperm counts. 2. About 10% of all patients attending male infertility clinics show a mitotic chromosome abnormality: 6–7% present a Klinefelter's syndrome or its variants, 1–3% have morphological rearrangements of the Y, or sex chromosome mosaicism, and 1–3% present structural autosome rearrangements (translocations, minor variants, etc.). Decreasing sperm counts are associated with an increasing probability of aneuploidy. 3. At present, identified meiotic abnormalities could explain about 2% of male sterilkies in patients with apparently normal somatic chromosomes.

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