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Prenat Diagn. 1995 Jan;15(1):64-5.

Prenatal diagnosis of 46,XX/47,XXY mosaicism: a case report.

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  • 1Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei.


A case of 46,XX/47,XXY mosaicism was diagnosed at 22 gestational weeks by amniocentesis and fetal blood sampling. After genetic counselling, the couple elected to have the pregnancy terminated. Culture of the fetal skin and both gonads confirmed the prenatal diagnosis. In external appearance, the abortus had no remarkable findings except hypospadia. Histology of both gonads showed testicular tissue without evidence of ovarian components.

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