title: Meiotic segregation of X-autosome translocation in two carriers and implications for assisted reproduction.
abstract: The aim of this study was to analyse and compare the meiotic segregation of X-autosome translocation in two male carriers and to discuss couple-specific treatment modality before intracytoplasmic sperm injection (ICSI). Meiotic segregation was analysed by fluorescence in-situ hybridization (FISH) in spermatozoa of two men who were carriers of a X-autosome translocation: 46,Y,t(X;2)(p21;p25.3) (patient 1) and 46,Y,t(X;18)(qll;pl1.1) (patient 2). The results indicated a majority of unbalanced spermatozoa (62.05%) for patient 1, but normal or balanced spermatozoa (54.36%) for patient 2. Moreover, the unbalanced gametes resulted from adjacent I, adjacent II and 3:1 segregation, in decreasing frequencies, for patient 1 but from 3:1, adjacent I, adjacent II segregation for patient 2. The results of the meiotic segregation analysis had different treatment implications for assisted reproduction. Couple 1 were advised against ICSI, due to the results of the meiotic segregation in spermatozoa from patient 1 and the age of his wife. For couple 2, the clinic viewed favourably an attempt with ICSI followed by conventional prenatal diagnosis. A 46,XY child was born without malformations.
authors.affiliation: Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.
authors.forename: Aurore
authors.initials: A
authors.lastname: Perrin
authors.forename: François
authors.initials: F
authors.lastname: Vialard
authors.forename: Nathalie
authors.initials: N
authors.lastname: Douet-Guilbert
authors.forename: Denise Molina
authors.initials: DM
authors.lastname: Gomes
authors.forename: Bruno
authors.initials: B
authors.lastname: Guthauser
authors.forename: Marc
authors.initials: M
authors.lastname: De Braekeleer
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Selva
authors.forename: Frédéric
authors.initials: F
authors.lastname: Morel
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D006580:Genetic Carrier Screening; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008540:Meiosis; D027724:Reproductive Techniques, Assisted; D013094:Spermatozoa / Q000648:ultrastructure