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Hum. Reprod. Advance Access published online on November 23, 2007
Human Reproduction, doi:10.1093/humrep/dem377
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Sperm aneuploidy and meiotic sex chromosome configurations in an infertile XYY male

Edgar Chan Wong, Kyle A Ferguson, Victor Chow and Sai Ma1

Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, Canada

1 Correspondence address. Department of Obstetrics and Gynaecology, Room D414B, BC Women's Hospital and Health Centre, D6-4500 Oak Street, Vancouver, Canada V6H 3N1. Tel: +1-604-875-2345 ext 5686; Fax: +1-604-875-2722; E-mail: sai{at}interchange.ubc.ca

BACKGROUND: There is little information regarding the behaviour of the extra Y chromosome during meiosis I in men with 47,XYY karyotypes and the segregation of the sex chromosomes in sperm. We applied immunofluorescent and FISH techniques to study the relationship between the sex chromosome configuration in meiotic germ cells and the segregation pattern in sperm, both isolated from semen samples of a 47,XYY infertile man.

METHODS: The sex chromosome configuration of pachytene germ cells was determined by immunostaining pachytene nuclei for synaptonemal complex protein 3 (SCP3) and SCP1. FISH was subsequently performed to identify the sex chromosomes and chromosome 18 in pachytene cells. Dual- and triple-color FISH was performed on sperm to analyse aneuploidy for chromosomes 13, 18, 21, X, and Y.

RESULTS: 46,XY/47,XYY mosaic pachytene cells were observed (22.2% vs. 77.8%, respectively). The XYY trivalent, and X+YY configurations were most common. While the majority of sperm were of normal chromosomal constitution, an increase in sex and autosome disomy was observed.

CONCLUSIONS: The level of germ cell moscaicism and their meiotic sex chromosome configurations may determine sperm aneuploidy rate and fertility status in 47,XYY men. Our approach of immunostaining meiotic cells in the ejaculate is a novel method for investigating spermatogenesis in infertile men.

Key words: sperm/aneuploidy/sex chromosomes/meiotic configurations/47,XYY

Submitted on August 28, 2007; resubmitted on October 26, 2007; accepted on October 30, 2007.


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