PMID: 11331634May 2, 2001Paper

Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization

Human Reproduction
J BlancoF Vidal

Abstract

Meiotic studies using multicolour fluorescent in-situ hybridization (FISH) and chromosome painting were carried out in three patients with sex chromosome anomalies (47,XXY; 46,XY/47,XXY and 47,XYY). In the two patients with Klinefelter syndrome, although variable percentages of XXY cells (88.5 and 28.3%) could be found in the pre-meiotic stages, none of the abnormal cells entered meiosis, and all pachytenes were XY. However, the abnormal testicular environment of these patients probably resulted in meiotic I non-disjunction, and a certain proportion of post-reductional cells were XY (18.3 and 1.7%). The fact that none of the spermatozoa were XY also suggests the existence of an arrest at the secondary spermatocyte or the spermatid level. In the XYY patient, most (95.9%) premeiotic cells were XYY. The percentage of XYY pachytenes was 57.9%. The sex chromosomes were either in close proximity (XYY) or the X chromosome was separated from the two Ys (X + YY). A high proportion (42.1%) of post-reductional germ cells were XY. However, only 0.11% of spermatozoa were disomic for the sex chromosomes. In this case, the data suggest the existence of an arrest of the abnormal cells at the primary and the secondary spermatocyte or the sperma...Continue Reading

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Citations

Sep 7, 2002·Fertility and Sterility·Brian DaleFulvio Zullo
Oct 31, 2002·Human Reproduction·J EgozcueF Vidal
Jan 21, 2010·Human Reproduction·G FullertonA Maheshwari
May 31, 2013·Molecular Human Reproduction·C TempladoA Estop
Feb 23, 2012·PloS One·Marieke de VriesPeter de Boer
Mar 19, 2013·European Journal of Endocrinology·L Aksglaede, A Juul
Aug 20, 2005·Asian Journal of Andrology·Zaida SarrateFrancesca Vidal
May 3, 2014·Annales d'endocrinologie·Ingrid PlottonHervé Lejeune
Jul 5, 2013·Molecular Cytogenetics·Aránzazu Margallo BalseraRaquel Rodríguez-López
Dec 30, 2014·Human Fertility : Journal of the British Fertility Society·Minh Huong NguyenAurore Perrin
Jul 4, 2012·Fertility and Sterility·Merel MaiburgJacques Giltay
Aug 13, 2011·Gynécologie, obstétrique & fertilité·C RavelI Berthaut
Sep 1, 2005·International Journal of Andrology·Nathalie RivesBertrand Macé
Jun 16, 2011·Andrologia·M M Abdel-RazicE S ElSobky
Jun 18, 2011·Stem Cells·C EguizabalJ C Izpisua Belmonte
Jan 9, 2003·The Urologic Clinics of North America·Paul J Turek, Renee A Reijo Pera
Jun 18, 2015·Journal of Assisted Reproduction and Genetics·Alisa Komsky-ElbazDeborah Strassburger
Sep 30, 2005·Cytogenetic and Genome Research·J EgozcueF Vidal
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Feb 2, 2011·Cytogenetic and Genome Research·C TempladoA Estop
May 2, 2006·Current Opinion in Genetics & Development·Heather HallTerry Hassold

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