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Aneuploidy frequency in sperm of fertile men

  • Human Genetics
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Abstract

Analysis of sperm aneuploidy in 11 healthy men using two-or three-color FISH permitted to determine the average frequency of disomy for chromosomes 13 and 21 (0.11% and 0.2%, respectively), disomy for chromosome 18 (0.05%) and to reveal gonosomal aneuploidy variants and their frequency. The frequency of XX disomy was 0.04%; XY, 0.17%; YY, 0.06%; and gonosomal nullisomy, 0.29%. We assessed the frequency of meiotic nondisjunction of 13, 21, 18, X, and Y chromosomes and the frequency of XX, XY, and YY diploid spermatozoa. The XY variant prevailed in gonosomal aneuploidy and diploidy and was associated with abnormal chromosomal segregation in meiotic anaphase I. The contribution of human sperm chromosomal imbalance to early embryonic lethality and to some forms of chromosomal abnormalities in the off-spring is discussed.

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Authors and Affiliations

  1. Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478, Russia

    E. G. Gordeeva, L. V. Shileiko, O. S. Pankratova & L. F. Kurilo

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  1. E. G. Gordeeva
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  2. L. V. Shileiko
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  3. O. S. Pankratova
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  4. L. F. Kurilo
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Correspondence to E. G. Gordeeva.

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Original Russian Text © E.G. Gordeeva, L.V. Shileiko, O.S. Pankratova, L.F. Kurilo, 2011, published in Genetika, 2011, Vol. 47, No. 6, pp. 828‐835.

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Gordeeva, E.G., Shileiko, L.V., Pankratova, O.S. et al. Aneuploidy frequency in sperm of fertile men. Russ J Genet 47, 732–738 (2011). https://doi.org/10.1134/S1022795411050085

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  • DOI: https://doi.org/10.1134/S1022795411050085

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