title: Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies.
abstract: An apparently balanced reciprocal translocation 46,X,t(Y;6) (q11.23 approximately q12;p11.1) was observed in an infertile man with severe oligozooteratozoospermia. Different mitotic chromosome banding patterns were performed and fluorescence in situ hybridization indicated a breakpoint in the fluorescent Yq heterochromatin. Molecular genetic deletion experiments for the azoospermia factor region in distal Yq11 showed the retention of the DAZ gene and meiotic pairing configurations suggested that the man's infertility could be due to the pairing behaviour of the Y;6 translocation chromosome with the X chromosome visualised by synaptonemal complex analysis at the electron microscopy level. The morphological appearance of the normal chromosome 6 and the Y;6 translocated chromosome included in the compartment of the sex vesicle may allow an explanation of the degeneration of most spermatocytes after the pachytene stage.
authors.affiliation: Laboratoire de Cytogénétique, Hôpital St-Antoine, Lille, France.
authors.forename: B
authors.initials: B
authors.lastname: Delobel
authors.forename: R
authors.initials: R
authors.lastname: Djlelati
authors.forename: O
authors.initials: O
authors.lastname: Gabriel-Robez
authors.forename: M F
authors.initials: MF
authors.lastname: Croquette
authors.forename: R
authors.initials: R
authors.lastname: Rousseaux-Prevost
authors.forename: J
authors.initials: J
authors.lastname: Rousseaux
authors.forename: J M
authors.initials: JM
authors.lastname: Rigot
authors.forename: Y
authors.initials: Y
authors.lastname: Rumpler
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008540:Meiosis / Q000235:genetics*; D013090:Spermatocytes / Q000473:pathology; D014178:Translocation, Genetic; D014998:Y Chromosome / Q000235:genetics* / Q000648:ultrastructure