title: Analysis of sex chromosome aneuploidy in sperm from fathers of Turner syndrome patients.
abstract: Numerical sex chromosome abnormalities were analyzed in sperm from four fathers of Turner syndrome patients of paternal origin to determine whether there was an increased frequency of sex chromosome aneuploidy and to elucidate whether meiotic malsegregation mechanisms could be involved in the origin of Turner syndrome. Determination of the parental origin of the single X chromosome (maternal in all four cases) and exclusion of X and Y mosaicism were carried out by polymerase chain reaction amplification of five X chromosome polymorphisms and three Y chromosome segments. A total of 45,299 sperm nuclei from Turner fathers and 85,423 sperm nuclei from eight control donors was analyzed by three-color fluorescence in situ hybridization. The four patients showed a significant increase in the percentages of XY sperm (mean 0.22%; range 0.20% to 0.22%) compared with control donors (mean 0.11%; range 0.06% to 0.18%). These results suggest that the four individuals have an increased frequency of nondisjunctional errors in meiosis I, resulting in the production of an increased proportion of XY spermatozoa and of sperm lacking a sex chromosome.
authors.affiliation: Dept. de Biologia Cellular i Fisiologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. omartinez@servet.uab.es
authors.forename: O
authors.initials: O
authors.lastname: Martínez-Pasarell
authors.forename: C
authors.initials: C
authors.lastname: Nogués
authors.forename: M
authors.initials: M
authors.lastname: Bosch
authors.forename: J
authors.initials: J
authors.lastname: Egozcue
authors.forename: C
authors.initials: C
authors.lastname: Templado
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002467:Cell Nucleus / Q000235:genetics / Q000473:pathology; D005220:Fathers; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D008875:Middle Aged; D012729:Sex Chromosome Aberrations; D013094:Spermatozoa / Q000473:pathology*; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome