Abstract
A 47,XXY karyotype was found in a 6-year-old girl. The patient had female external genitalia, clitoromegaly, remnants of the ductus mesonephricus, uterus, and gonads in the labia majora which were determined to be testes by histology. Cytogenetic and DNA analyses suggest that the Y chromosome had a normal structure and that both X chromosomes were of maternal origin. The unusual clinical findings in the patient are discussed.
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Dedicated to Professor Ulrich Wolf on the occasion of his 60th birthday
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Schmid, M., Guttenbach, M., Enders, H. et al. A 47,XXY female with unusual genitalia. Hum Genet 90, 346–349 (1992). https://doi.org/10.1007/BF00220456
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DOI: https://doi.org/10.1007/BF00220456