title: Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization.
abstract: Fluorescence in situ hybridization (FISH) with single-color chromosome-specific probes was used to study the rates of disomy for chromosome 1, 16, X, and Y in sperm of fertile and infertile subjects. Diploidy rates were studied using a two-color cocktail of probes for chromosomes 17 and 18 in the same sperm samples. Two-color methodology was not available at the outset of the study. A total of 450,580 spermatozoa were studied from 21 subjects (9 fertile, 12 infertile). Significant differences were observed in the disomy rates between chromosomes with the highest frequency observed for chromosome 16 (0.17%) and the lowest for the Y chromosome (0.10%). No differences were observed between fertile and infertile subjects for either diploidy or disomy. Total disomy rates for chromosomes 1, 16, X and Y ranged from 0.34% to 0.84% among infertile subjects, and 0.32% to 0.61% among fertile subjects. Our data suggest that generalized aneuploidy in sperm is not a major contributor to unexplained infertility.
authors.affiliation: University of South Carolina, School of Medicine, Department of Obstetrics and Gynecology, Columbia 29203.
authors.forename: N
authors.initials: N
authors.lastname: Miharu
authors.forename: R G
authors.initials: RG
authors.lastname: Best
authors.forename: S R
authors.initials: SR
authors.lastname: Young
mesh_terms: D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D015342:DNA Probes; D005298:Fertility / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D012730:Sex Chromosomes; D013094:Spermatozoa / Q000002:abnormalities*
chemical_list: D015342:DNA Probes