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A 47,XXY female with unusual genitalia

โœ Scribed by M. Schmid; M. Guttenbach; H. Enders; V. Terruhn

Publisher
Springer
Year
1992
Tongue
English
Weight
571 KB
Volume
90
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

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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