title: Acrocentric chromosome disomy is increased in spermatozoa from fathers of Turner syndrome patients.
abstract: The aim of the present study was to investigate whether there was an increase of aneuploidy in the sperm from fathers of Turner syndrome patients of paternal origin who, in a previous study, showed an elevated incidence of XY meiotic nondisjunction. Sperm disomy frequencies for chromosomes 4, 13, 18, 21 and 22 were assessed by fluorescence in situ hybridisation in four of these individuals. As a group, the Turner syndrome fathers showed a general increase in disomy frequencies for chromosomes 13, 21 and 22, with a statistically significant increase in disomy frequencies for chromosomes 13 and 22 in one of the fathers and for chromosome 21 in two of them. Data from a previous work carried out by us in two fathers of Down syndrome patients of paternal origin also revealed increased sperm disomy frequencies for chromosomes 13, 21 and 22. Pooled as one group, these six fathers of aneuploid offspring of paternal origin had a statistically significant increase in the frequency of nondisjunction for these chromosomes with respect to control individuals. Our findings indicate that there may be an association between fathering aneuploid offspring and increased frequencies of aneuploid spermatozoa. Such increases do not seem to be restricted to the chromosome pair responsible for the aneuploid offspring. Acrocentric chromosomes and other chromosome pairs that usually show only one chiasma during meiosis seem to be more susceptible to malsegregation.
authors.affiliation: Facultat de Medicina, Departament de Biologia Cel.lular, Fisiologia i Inmunologia, Universitat Autònoma de Barcelona, Spain.
authors.forename: S R
authors.initials: SR
authors.lastname: Soares
authors.forename: F
authors.initials: F
authors.lastname: Vidal
authors.forename: M
authors.initials: M
authors.lastname: Bosch
authors.forename: O
authors.initials: O
authors.lastname: Martínez-Pasarell
authors.forename: C
authors.initials: C
authors.lastname: Nogués
authors.forename: J
authors.initials: J
authors.lastname: Egozcue
authors.forename: C
authors.initials: C
authors.lastname: Templado
mesh_terms: D000782:Aneuploidy; D002503:Centromere; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D005192:Family Health; D005787:Gene Frequency; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D013094:Spermatozoa / Q000378:metabolism*; D014424:Turner Syndrome / Q000235:genetics*