Genetic counseling in a patient with XXY/XXXY/XY mosaic Klinefelter's syndrome: estimate of sex chromosome aberrations in sperm before intracytoplasmic sperm injection

Fertility and Sterility
R KruseP Propping


To report the sex chromosome aberrations in the sperm of a patient with mosaic Klinefelter's syndrome before ICSI. Case report. Institute of Human Genetics, University Hospital A patient with an XXY/XXXY/XY mosaic Klinefelter's syndrome and extreme oligozoospermia. Skin biopsy, buccal smear, hair root sampling, and semen sampling. The karyotypes of three additional somatic cell systems and the ratio of sex chromosome aberrations in sperm. After two-color fluorescence in situ hybridization of 202 interphase sperm nuclei, both the proportion of hyperhaploid 24, XY and 25, XXY sperm (5.0% and 0.5%, respectively) and of hyperhaploid 24, XX sperm (2.0%) were elevated. In contrast with peripheral lymphocytes, 93.9% of which showed sex chromosome aberrations, in the present patient only 7.5% of sperm proved to be hyperhaploid with an extra sex chromosome. The determination of sex chromosome aberrations in the sperm of a patient with mosaic Klinefelter's syndrome may provide additional information to estimate the transmission risk to his offspring.


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