title: Abnormalities for chromosomes 13 and 21 detected in spermatozoa from infertile men.
abstract: Sperm samples from infertile men with oligozoospermia or teratozoospermia were studied by multicolour fluorescence in-situ hybridization (FISH) using DNA probes for chromosomes 13 and 21. A total of 90 809 sperm nuclei from nine infertile men and 182 799 sperm nuclei from 18 control donors were analysed. There was a highly significant increase in the frequency of spermatozoa disomic for chromosome 13 in infertile patients (0.28%) compared to control donors (0.13%) (two-tailed Z statistic P < 0.0001) and for chromosome 21 (0.48% in infertile men versus 0.37% in controls, P < 0.0001). Also there was a significantly increased frequency of diploid spermatozoa in infertile men (0.85%) compared to control donors (0.66%) (P < 0.0001). Our previous studies on these same infertile patients demonstrated increased frequencies of sperm disomy for chromosomes 1 and XY. This suggests that infertile men, who are prime candidates for intracytoplasmic sperm injection, may be at a very small increased risk of aneuploid offspring.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, University of Calgary, Alberta, Canada.
authors.forename: B
authors.initials: B
authors.lastname: McInnes
authors.forename: A
authors.initials: A
authors.lastname: Rademaker
authors.forename: C A
authors.initials: CA
authors.lastname: Greene
authors.forename: E
authors.initials: E
authors.lastname: Ko
authors.forename: L
authors.initials: L
authors.lastname: Barclay
authors.forename: R H
authors.initials: RH
authors.lastname: Martin
mesh_terms: D000328:Adult; D000782:Aneuploidy; D016022:Case-Control Studies; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D015342:DNA Probes; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D012307:Risk Factors; D013094:Spermatozoa / Q000648:ultrastructure
chemical_list: D015342:DNA Probes