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

Objective: To report the sex chromosome aberrations in the sperm of a patient with mosaic Klinefelter's syndrome before ICSI. Design: Case report. Setting: Institute of Human Genetics, University Hospital Patient(s): A patient with an XXY/XXXY/XY mosaic Klinefelter's syndrome and extreme oligozoospermia. Intervention(s): Skin biopsy, buccal smear, hair root sampling, and semen sampling. Main Outcome Measure(s): The karyotypes of three additional somatic cell systems and the ratio of sex chromosome aberrations in sperm. Result(s): 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 revised and accepted patient only 7.5% of sperm proved to be hyperhaploid with an extra sex chromosome. Conclusion(s): 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. (C) 1998 by American Society for Reproductive Medicine.