Sperm aneuploidy and meiotic sex chromosome configurations in an infertile XYY male.
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.
Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, Canada.
Edgar Chan
EC
Wong
Kyle A
KA
Ferguson
Victor
V
Chow
Sai
S
Ma
D000328:Adult; D000782:Aneuploidy; D018797:Cell Cycle Proteins; D002467:Cell Nucleus / Q000378:metabolism; D004268:DNA-Binding Proteins; D005455:Fluorescent Antibody Technique; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008540:Meiosis; D009030:Mosaicism; D009687:Nuclear Proteins / Q000378:metabolism; D049471:Pachytene Stage; D010749:Phosphoprotein Phosphatases / Q000378:metabolism; D012730:Sex Chromosomes; D013094:Spermatozoa / Q000378:metabolism / Q000473:pathology*; D014997:XYY Karyotype / Q000235:genetics*
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C490060:SYCP3 protein, human; C413483:CTDSP1 protein, human; D010749:Phosphoprotein Phosphatases