Human Reproduction, Vol. 15, No. 2, 440-444,
February 2000
© 2000 European Society of Human Reproduction and Embryology
Fluorescence in-situ hybridization of sex chromosomes in spermatozoa and spare preimplantation embryos of a Klinefelter 46,XY/47,XXY male
1 Departments of Obstetrics and Gynecology and 2 Human Genetics, Royal Victoria Hospital, Women's Pavilion, McGill University, Montreal, QC H3A 1A1, Canada
It has been suggested recently that 47,XXY germ cells are able to progress through meiosis to produce hyperhaploid spermatozoa. We report on a 46,XY/47,XXY Klinefelter patient whose spermatozoa were recovered from the ejaculate and used for intracytoplasmic sperm injection (ICSI). Fluorescence in-situ hybridization (FISH) analysis of the patient's spermatozoa and of spare preimplantation embryos with DNA probes specific for chromosomes X, Y and 18 revealed sex chromosome hyperploidy in 3.9% of the sperm nuclei analysed (2.23% XY18, 1.12% XX18, 0.56% YY18), while only three out of 10 spare embryos analysed were normal for chromosomes tested. The abnormalities included two diploid mosaic embryos with the majority of the blastomeres normal for the chromosomes tested, and five embryos with mostly abnormal blastomeres and chaotic chromosome X, Y and 18 patterns. None of the embryos analysed showed a XXY1818 or XXX1818 chromosome complement. The frequency of sex chromosome hyperploidy in the spermatozoa of the mosaic Klinefelter patient was higher than the mean reported for karyotypically normal males, supporting the hypothesis that 47,XXY germ cells are able to complete meiosis and produce aneuploid spermatozoa. However, most of the spermatozoa analysed were normal for sex chromosomes, and ICSI of the patient's spermatozoa did not result in a spare embryo with a uniform 47,XXY or 47,XXX chromosome complement. Instead, fertilization produced a high percentage of mosaic embryos with chaotic chromosome arrangements.
Key words: fluorescence in-situ hybridization/intracytoplasmic sperm injection/Klinefelter syndrome/preimplantation embryos/sex chromosomes
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