title: Meiotic segregation in males heterozygote for reciprocal translocations: analysis of sperm nuclei by two and three colour fluorescence in situ hybridization.
abstract: The meiotic segregation of chromosomes was analysed in three reciprocal translocation carriers, using FISH on interphase spermatozoa. The segregation pattern was first studied in 27,844 spermatozoa from two siblings carrying the reciprocal translocation t(6;11)(q14;p14). Three centromeric probes, specific for chromosomes 6, 11 and 1, were simultaneously hybridized so that all centric fragments as well as the ploidy of each cell could be determined by three colour FISH. For both subjects, the respective frequencies of alternate/adjacent 1, adjacent 2, 3:1 and 4:0 segregation modes were 88%, 9%, 3+ and < 1%. In another reciprocal translocation t(2;14)(p23.1;q31), a two colour FISH analysis was performed on 4,610 spermatozoa, using a chromosome 2 centromeric probe and a YAC probe located on the centric fragment of chromosome 14. Frequencies of alternate/adjacent 1, adjacent 2, and 3:1 segregations were 89%, 5.2%, and 5.8% respectively. The segregation of chromosomes X, Y and 1 were also analyzed with three colour FISH on the spermatozoa from all three translocation carriers, in order to detect an interchromosomal effect. Aneuploidy rates for the X and Y chromosomes were found to be in the same range in the three translocation carriers and control donors, but disomy 1 rates were slightly increased in the translocation carriers.
authors.affiliation: Reproductive Biology Unit, DyOGen, Albert Bonniot Institute, Grenoble University Medical School, France.
authors.forename: S
authors.initials: S
authors.lastname: Rousseaux
authors.forename: E
authors.initials: E
authors.lastname: Chevret
authors.forename: M
authors.initials: M
authors.lastname: Monteil
authors.forename: J
authors.initials: J
authors.lastname: Cozzi
authors.forename: R
authors.initials: R
authors.lastname: Pelletier
authors.forename: F
authors.initials: F
authors.lastname: Devillard
authors.forename: J
authors.initials: J
authors.lastname: Lespinasse
authors.forename: B
authors.initials: B
authors.lastname: Sèle
mesh_terms: D002467:Cell Nucleus / Q000648:ultrastructure*; D002880:Chromosomes, Human, Pair 11; D002883:Chromosomes, Human, Pair 14; D002889:Chromosomes, Human, Pair 2; D002896:Chromosomes, Human, Pair 6; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008297:Male; D008540:Meiosis / Q000235:genetics*; D013094:Spermatozoa / Q000648:ultrastructure*; D014178:Translocation, Genetic