title: Estimation of aneuploidy for chromosomes 3, 7, 16, X and Y in spermatozoa from 10 normospermic men using fluorescence in-situ hybridization.
abstract: Fluorescence in-situ hybridization (FISH) is a fast and efficient method of estimating aneuploidy in human spermatozoa. In this study, we have estimated baseline disomy frequencies in spermatozoa from a group of 10 normospermic men, using stringent scoring criteria. A triple-probe FISH procedure was used for chromosomes 3, X and Y, while a double-probe FISH method was used for chromosomes 7 and 16. A total of 101273 spermatozoa were scored for chromosomes 3, X and Y, resulting in 97.83% haploidy (3X or 3Y), 0.39% disomy (33X, 33Y, 3XX, 3YY or 3XY) and 0.35% diploidy (33XX, 33YY or 33XY). A total of 100760 spermatozoa were scored for chromosomes 7 and 16, giving 98.9% haploidy (716), 0.11% disomy (7716 or 71616) and 0.27% diploidy (771616). Disomy frequencies for individual chromosomes differed (chromosome 3, 0.20%; chromosome 7, 0.05%, chromosome 16, 0.06%; X + Y, 0.19%). The frequency of disomy 3 was significantly higher than disomy 7 (P = 0.019) and disomy 16 (P = 0.022), while the frequency of sex chromosome disomy was significantly higher than disomy 7 (P = 0.0058) and disomy 16 (P = 0.0067), but not disomy 3 (P = 0.73). The disomy and diploidy (0.27-0.35%) estimates obtained for this normospermic population were generally low and were similar to other recent reports.
authors.affiliation: Department of Obstetrics and Gynaecology, The University of Adelaide, The Queen Elizabeth Hospital, Woodville, Australia.
authors.forename: S E
authors.initials: SE
authors.lastname: Downie
authors.forename: S P
authors.initials: SP
authors.lastname: Flaherty
authors.forename: N J
authors.initials: NJ
authors.lastname: Swann
authors.forename: C D
authors.initials: CD
authors.lastname: Matthews
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004171:Diploidy; D005787:Gene Frequency; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D013094:Spermatozoa / Q000648:ultrastructure*; D014314:Trisomy; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*