Aneuploidy frequency in sperm of fertile men

Analysis of sperm aneupoidy in 11 healthy men using two- or three-color FISH permitted to determine the average frequency of disomy in chromosomes 13 and 21 (0.11% and 0.2%, respectively), disomy in chromosome 18 (0.05%) and reveal gonosomal aneuploidy variants and their frequency. The frequency of...

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Bibliographic Details
Published inGenetika Vol. 47; no. 6; p. 828
Main Authors Gordeeva, E G, Shileĭko, L V, Pankratova, O S, Kurilo, L F
Format Journal Article
LanguageRussian
Published Russia (Federation) 01.06.2011
Subjects
Adult
Aneuploidy
Chromosomes, Human, X - genetics
Chromosomes, Human, Y - genetics
Humans
Male
Middle Aged
Spermatozoa
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Summary:Analysis of sperm aneupoidy in 11 healthy men using two- or three-color FISH permitted to determine the average frequency of disomy in chromosomes 13 and 21 (0.11% and 0.2%, respectively), disomy in chromosome 18 (0.05%) and 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 also assessed the frequency of meiotic nondisjunction of chromosomes 13, 21, 18, X, and Y and the frequency of XX, XY, and YY diploid chromosomes in sperm. 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 chromosomal diseases of syndrome type in the offspring is discussed.
ISSN:0016-6758