title: Nondisjunction in human sperm: comparison of frequencies in acrocentric chromosomes.
abstract: Acrocentric chromosomes may be particularly predisposed to nondisjunction because of the frequency of trisomy for these chromosomes in human spontaneous abortions and liveborns. Studies of aneuploidy in human sperm have provided data on only a few acrocentric chromosomes, with evidence that chromosome 21 has a significantly increased frequency of disomy. To determine whether other acrocentric chromosomes have a higher frequency of nondisjunction or if chromosome 21 is anomalous, disomy frequencies for chromosomes 13 and 22 were studied by fluorescence in situ hybridization (FISH) analysis of 51,043 sperm nuclei from five normal men for whom the frequency of disomy for chromosomes 15 and 21 was known. The mean frequency of disomy for chromosome 13 (0.19%) did not differ significantly from that for other autosomes; however, the frequency of disomy 22 (1.21%) was significantly elevated (P < 0.001, Mantel-Haenszel chi(2) test). The G-group chromosomes (Nos. 21 and 22) also showed a significantly increased frequency of disomy (0. 75%) compared to acrocentric D-group chromosomes (viz., chromosomes 13 and 15; 0.15%) (P < 0.001, Mantel-Haenszel chi(2) test) and other autosomes (chromosomes 1, 2, 4, 9, 12, 13, 15, 16, 18, and 20; 0. 13%) studied in the same men (P < 0.001, Mantel-Haenszel chi(2) test).
authors.affiliation: Department of Medical Genetics, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada. renee@ach.ucalgary.ca
authors.forename: R H
authors.initials: RH
authors.lastname: Martin
authors.forename: A W
authors.initials: AW
authors.lastname: Rademaker
mesh_terms: D000782:Aneuploidy; D002452:Cell Count; D002877:Chromosomes, Human / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009630:Nondisjunction, Genetic; D013094:Spermatozoa / Q000166:cytology* / Q000378:metabolism