Human Genetics

, Volume 90, Issue 4, pp 346–349

A 47,XXY female with unusual genitalia


  • M. Schmid
    • Institut für Humangenetik der UniversitätUniversität Würzburg
  • M. Guttenbach
    • Institut für Humangenetik der UniversitätUniversität Würzburg
  • H. Enders
    • Institut für Anthropologie und HumangenetikUniversität Tübingen
  • V. Terruhn
    • Frauenklinik I — Gynäkologie
Original Investigations

DOI: 10.1007/BF00220456

Cite this article as:
Schmid, M., Guttenbach, M., Enders, H. et al. Hum Genet (1992) 90: 346. doi:10.1007/BF00220456


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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© Springer-Verlag 1992