title: Sex chromosome mosaicism in males carrying Y chromosome long arm deletions.
abstract: Microdeletions of the long arm of the Y chromosome (Yq) are a common cause of male infertility. Since large structural rearrangements of the Y chromosome are commonly associated with a 45,XO/46,XY chromosomal mosaicism, we studied whether submicroscopic Yq deletions could also be associated with the development of 45,XO cell lines. We studied blood samples from 14 infertile men carrying a Yq microdeletion as revealed by polymerase chain reaction (PCR). Patients were divided into two groups: group 1 (n = 6), in which karyotype analysis demonstrated a 45,X/46,XY mosaicism, and group 2 (n = 8) with apparently a normal 46,XY karyotype. 45,XO cells were identified by fluorescence in-situ hybridization (FISH) using X and Y centromeric probes. Lymphocytes from 11 fertile men were studied as controls. In addition, sperm cells were studied in three oligozoospermic patients in group 2. Our results showed that large and submicroscopic Yq deletions were associated with significantly increased percentages of 45,XO cells in lymphocytes and of sperm cells nullisomic for gonosomes, especially for the Y chromosome. Moreover, two isodicentric Y chromosomes, classified as normal by cytogenetic methods, were detected. Therefore, Yq microdeletions may be associated with Y chromosomal instability leading to the formation of 45,XO cell lines.
authors.affiliation: Service d'Histologie, Biologie de la Reproduction et Cytogénétique et CECOS, Hôpital Tenon, 4 Rue de la Chine, 75020 Paris, France. jean-pierre.siffroi@tnn.ap-hop-paris.fr
authors.forename: J P
authors.initials: JP
authors.lastname: Siffroi
authors.forename: C
authors.initials: C
authors.lastname: Le Bourhis
authors.forename: C
authors.initials: C
authors.lastname: Krausz
authors.forename: S
authors.initials: S
authors.lastname: Barbaux
authors.forename: L
authors.initials: L
authors.lastname: Quintana-Murci
authors.forename: S
authors.initials: S
authors.lastname: Kanafani
authors.forename: H
authors.initials: H
authors.lastname: Rouba
authors.forename: L
authors.initials: L
authors.lastname: Bujan
authors.forename: G
authors.initials: G
authors.lastname: Bourrouillou
authors.forename: I
authors.initials: I
authors.lastname: Seifer
authors.forename: D
authors.initials: D
authors.lastname: Boucher
authors.forename: M
authors.initials: M
authors.lastname: Fellous
authors.forename: K
authors.initials: K
authors.lastname: McElreavey
authors.forename: J P
authors.initials: JP
authors.lastname: Dadoune
mesh_terms: D000328:Adult; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations; D013094:Spermatozoa / Q000648:ultrastructure; D014998:Y Chromosome