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. 2000 Feb;17(2):97–102. doi: 10.1023/A:1009413916753

Sex Chromosomal Analysis of Spermatozoa from Infertile Men Using Fluorescence In Situ Hybridization

Naomi Nishikawa 1,✉, Isamu Murakami 1, Katsuo Ikuta 1, Kaoru Suzumori 1
PMCID: PMC3455159  PMID: 10806588

Abstract

Purpose: To confirm an association between male infertilityand chromosome aberrations of spermatozoa, wedemonstrated the frequency of numerical abnormalities ofspermatozoa from infertile men with abnormal semen parameterscompared with fertile controls.

Method: Sperm cells from 10 infertile patients wereinvestigated for disomy rates of sex chromosomes and chromosome18 and diploidy by fluorescence in situ hybridization (FISH).All patients showed oligoasthenozoospermia with spermcounts 3–20 × 106/ml and motile rates 0–40%.

Results: Regarding XY disomy, a significantly higherfrequency was found in 8 of 10 patients as compared to normalfertile men. The disomy rates of chromosome 18, XX, YY,and diploidy rate were not increased.

Conclusions: There is an association between maleinfertility and embryo with aneuploidy of sex chromosomes.Counseling about possible genetic risks should be provided to theinfertile couples planning assisted reproduction treatment.

Keywords: FISH, infertile men, sex chromosome aneuploidy, spermatozoa, XY disomy

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