title: A study of aneuploidy and DNA fragmentation in spermatozoa of three men with sex chromosome mosaicism including a 45,X cell line.
abstract: Meiotic segregation of mosaic males with a 45,X cell line has been little examined. In this study, we evaluated the risk of aneuploid gametes using fluorescence in situ hybridization (FISH) and DNA fragmentation in ejaculated spermatozoa of three men with sex chromosome mosaicism including a 45,X cell line. Triple- and dual-color FISH were performed. Sperm DNA fragmentation was detected using the TUNEL assay. A significantly increased frequency of XY disomic spermatozoa was observed for patients (P)1 and P2. A significant increase in diploidy and autosomal aneuploidy was found in P2 and P3, respectively. The rate of DNA fragmentation was not different from that observed in a control group. Data from the literature are scarce (only 3 cases reported), making comparison of the present data difficult, especially as the frequencies of the cell lines comprising the mosaicism differed between patients. Furthermore, the proportion of the different cell lines can differ from one tissue to another in the same patient. Whether the relative levels of the several cell lines present in the mosaicism can influence the rate of aneuploid spermatozoa remains unknown.
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: Minh Huong
authors.initials: MH
authors.lastname: Nguyen
authors.forename: Frederic
authors.initials: F
authors.lastname: Morel
authors.forename: Louis
authors.initials: L
authors.lastname: Bujan
authors.forename: Pascale
authors.initials: P
authors.lastname: May-Panloup
authors.forename: Marc
authors.initials: M
authors.lastname: De Braekeleer
authors.forename: Aurore
authors.initials: A
authors.lastname: Perrin
mesh_terms: D000782:Aneuploidy; D002460:Cell Line; D053938:DNA Fragmentation; D006801:Humans; D008297:Male; D009030:Mosaicism; D025064:Sex Chromosome Disorders / Q000473:pathology*; D012730:Sex Chromosomes; D013094:Spermatozoa / Q000473:pathology*
keywords: DNA fragmentation; Sex chromosome mosaicism; aneuploidy; meiotic segregation