title: Sperm chromosome analysis in the father of a child with a de-novo reciprocal translocation t(11;15)(q12;q22) by G-banding and fluorescence in-situ hybridization.
abstract: Analysis of sperm chromosomes by G-banding and two-colour fluorescence in-situ hybridization (FISH) was carried out in the father of a child with a de-novo reciprocal translocation t(11;15)(q12;q22). Sperm chromosome complements were obtained after in-vitro fusion of zona-free hamster oocytes and donor spermatozoa. A total of 112 sperm complements was first analysed by G-banding. The frequency of structural chromosome aberrations (9.8%) and the conservative frequency of aneuploidy (0.0%) were not significantly different from those obtained in our control donors. The proportions of X-bearing (53.2%) and Y-bearing (46.8%) spermatozoa were not significantly different from the expected 1:1 ratio. A total of 313 sperm complements was analysed by two-colour FISH. The frequency of structural abnormalities for chromosomes 11 and 15 was 3.2 and 0.3% respectively. The frequency of rearrangements for chromosome 11 was statistically significant when compared with control donors (0.4%) (P < 0.0001). No spermatozoa with the t(11;15)(q12;q22) translocation were observed, showing no evidence for a germ-cell mosaicism. These results suggest that the de-novo involvement of chromosome 11 in a structural rearrangement is not random, and that in this patient an increased risk of de-novo structural chromosome abnormalities in further offspring does exist.
authors.affiliation: Department de Biologia Cellular i Fisiologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Colls
authors.forename: O
authors.initials: O
authors.lastname: Martínez-Pasarell
authors.forename: M M
authors.initials: MM
authors.lastname: Pérez
authors.forename: J
authors.initials: J
authors.lastname: Egozcue
authors.forename: C
authors.initials: C
authors.lastname: Templado
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D001399:Azure Stains; D016022:Case-Control Studies; D002871:Chromosome Banding / Q000379:methods; D002880:Chromosomes, Human, Pair 11; D002884:Chromosomes, Human, Pair 15; D006224:Cricetinae; D005220:Fathers; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013084:Sperm-Ovum Interactions; D014178:Translocation, Genetic
chemical_list: D001399:Azure Stains