title: Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: a case report.
abstract: t(13;15) and t(14;15) are two rare Robertsonian translocations. Meiotic segregation was studied in four males heterozygous for the rare Robertsonian translocations t(13;15) and t(14;15). Both locus-specific probes (LSPs) and whole chromosome painting (WCP) probes, specific to chromosomes 13, 14 and 15, were used in this study. The number of spermatozoa scored for each carrier ranged from 891 to 5000. The frequencies of normal and balanced sperm resulting from the alternate mode of segregation ranged from 77.6 to 92.8%, confirming the prevalence of alternate segregation over other segregation modes in all Robertsonian translocations. The incidences of unbalanced complements ranged from 6.7 to 20.4%, with a significant excess of disomy rates over the complementary frequencies of nullisomy. This variability might reflect differences in the location of breakpoints in translocated chromosomes, leading to the variable production of unbalanced gametes and the variable alterations of semen parameters in Robertsonian translocation carriers.
authors.affiliation: Institute of Human Genetics, CNRS, Montpellier, France.
authors.forename: K
authors.initials: K
authors.lastname: Moradkhani
authors.forename: J
authors.initials: J
authors.lastname: Puechberty
authors.forename: S
authors.initials: S
authors.lastname: Bhatt
authors.forename: J
authors.initials: J
authors.lastname: Lespinasse
authors.forename: P
authors.initials: P
authors.lastname: Vago
authors.forename: G
authors.initials: G
authors.lastname: Lefort
authors.forename: P
authors.initials: P
authors.lastname: Sarda
authors.forename: S
authors.initials: S
authors.lastname: Hamamah
authors.forename: F
authors.initials: F
authors.lastname: Pellestor
mesh_terms: D000328:Adult; D020090:Chromosome Segregation; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002884:Chromosomes, Human, Pair 15; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D008540:Meiosis; D013094:Spermatozoa / Q000648:ultrastructure*; D014178:Translocation, Genetic