title: FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male.
abstract: The most common structural rearrangements of the Y chromosome result in the production of dicentrics. In this work, we analyze an abnormal Y chromosome, detected as a mosaic in an azoospermic male ascertained for infertility. FISH with seven different DNA probes specific for Y chromosome sequences (Y alpha-satellite, Y alpha-satellite III, non-alpha-satellite centromeric Y, SRY gene, subtelomeric Yp, subtelomeric Yq, and PNA-tel) and CGH analysis were performed. FISH results showed that the abnormal Y chromosome was a dicentric Yq isochromosome and that the breakpoint was distally in band Yp11.32. Lymphocyte chromosomes showed a mosaicism with 46,X,idicY(qter-->p11.32::p11.32-->qter) (51.7%), 46,XY (45.6%), and other cell lines (2.7%). In oral interphase cells, the mosaicism was 46,XidicY (62.8%), 46,XY (25.7%), 45,X (6.6%), and others (4.9%). The possible origin of this dicentric Yq isochromosome is discussed. Finally, we compare differences in mosaicism and phenotype among three reported cases with the breakpoint at Yp11.32
authors.affiliation: Departament de Biologia Cellular, Fisiologia i Immunologia, Facultat Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. montserrat.codina@uab.es
authors.forename: M
authors.initials: M
authors.lastname: Codina-Pascual
authors.forename: M
authors.initials: M
authors.lastname: Oliver-Bonet
authors.forename: J
authors.initials: J
authors.lastname: Navarro
authors.forename: H
authors.initials: H
authors.lastname: Starke
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.forename: C
authors.initials: C
authors.lastname: Gutiérrez-Mateo
authors.forename: J F
authors.initials: JF
authors.lastname: Sánchez-García
authors.forename: O
authors.initials: O
authors.lastname: Arango
authors.forename: J
authors.initials: J
authors.lastname: Egozcue
authors.forename: J
authors.initials: J
authors.lastname: Benet
mesh_terms: D000328:Adult; D041322:Chromosomes, Human, Y; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes; D008297:Male; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D009845:Oligospermia / Q000235:genetics*