PMID- 25545806 OWN - NLM STAT- MEDLINE DCOM- 20160318 LR - 20150617 IS - 1742-8149 (Electronic) IS - 1464-7273 (Linking) VI - 18 IP - 2 DP - 2015 Jun TI - A study of aneuploidy and DNA fragmentation in spermatozoa of three men with sex chromosome mosaicism including a 45,X cell line. PG - 96-9 LID - 10.3109/14647273.2014.988663 [doi] AB - 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. FAU - Nguyen, Minh Huong AU - Nguyen MH AD - Laboratoire d'Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale , Brest , France. FAU - Morel, Frederic AU - Morel F FAU - Bujan, Louis AU - Bujan L FAU - May-Panloup, Pascale AU - May-Panloup P FAU - De Braekeleer, Marc AU - De Braekeleer M FAU - Perrin, Aurore AU - Perrin A LA - eng PT - Case Reports PT - Journal Article DEP - 20141229 PL - England TA - Hum Fertil (Camb) JT - Human fertility (Cambridge, England) JID - 100888143 SB - IM MH - *Aneuploidy MH - Cell Line MH - *DNA Fragmentation MH - Humans MH - Male MH - *Mosaicism MH - Sex Chromosome Disorders/*pathology MH - Sex Chromosomes MH - Spermatozoa/*pathology OTO - NOTNLM OT - DNA fragmentation OT - Sex chromosome mosaicism OT - aneuploidy OT - meiotic segregation EDAT- 2014/12/30 06:00 MHDA- 2016/03/19 06:00 CRDT- 2014/12/30 06:00 PHST- 2014/12/30 06:00 [entrez] PHST- 2014/12/30 06:00 [pubmed] PHST- 2016/03/19 06:00 [medline] AID - 10.3109/14647273.2014.988663 [doi] PST - ppublish SO - Hum Fertil (Camb). 2015 Jun;18(2):96-9. doi: 10.3109/14647273.2014.988663. Epub 2014 Dec 29.