title: Case report: Meiotic segregation in spermatozoa of a 46,X,t(Y;10)(q11.2;p15.2) fertile translocation carrier.
abstract: Translocations involving gonosomes are frequent in azoospermic patients and sometimes in oligozoospermic ones, conditions that lead to request for assisted reproduction treatment. This study reports an unexpectedly fertile 49-year-old man bearing a de-novo translocation 46,X,t(Y;10)(q11.2;q15.2) associated with a high chromosomal risk for offspring, and referred for familial investigations after the diagnosis of an unbalanced translocation 46,XX,der(10)t(Y;10)(q11.2;p15.2) in his naturally conceived and mentally retarded daughter. Chromosome molecular investigation confirmed Y long-arm inheritance in the daughter and absence of the Yq deletion in the father. Semen analysis showed a normal sperm count associated with moderate asthenospermia and severe teratospermia. A total of 984 spermatozoa were analysed using fluorescence in-situ hybridization (FISH). Alternate segregation pattern was found in 50.31% of the spermatozoa studied. The frequencies of adjacent I, adjacent II, 3:1 segregation, and diploidy (or 4:0 segregation) were respectively 39.62, 1.63, 7.83, and 0.61%. No interchromosomal effect was observed. This patient is the first fertile man in whom the meiotic segregation pattern of a Y-autosome translocation has been analysed. The imbalance risk was close to those observed for reciprocal translocations, and emphasizes the value of FISH studies in males with a chromosomal translocation in order to provide them a personalized risk evaluation.
authors.affiliation: Federation of Genetics, CHI Poissy Saint Germain, 10 rue du Champ Gaillard, Poissy Cedex, France. fvialard@hotmail.com
authors.forename: F
authors.initials: F
authors.lastname: Vialard
authors.forename: D
authors.initials: D
authors.lastname: Molina-Gomes
authors.forename: J
authors.initials: J
authors.lastname: Roume
authors.forename: A
authors.initials: A
authors.lastname: Podbiol
authors.forename: C
authors.initials: C
authors.lastname: Hirel
authors.forename: M
authors.initials: M
authors.lastname: Bailly
authors.forename: I
authors.initials: I
authors.lastname: Hammoud
authors.forename: J M
authors.initials: JM
authors.lastname: Dupont
authors.forename: P
authors.initials: P
authors.lastname: de Mazancourt
authors.forename: J
authors.initials: J
authors.lastname: Selva
mesh_terms: D020090:Chromosome Segregation / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D008540:Meiosis / Q000235:genetics*; D010375:Pedigree; D018570:Risk Assessment; D013094:Spermatozoa / Q000737:chemistry / Q000166:cytology*; D014178:Translocation, Genetic / Q000235:genetics*