Human Genetics

, Volume 90, Issue 4, pp 346–349

A 47,XXY female with unusual genitalia

  • M. Schmid
  • M. Guttenbach
  • H. Enders
  • V. Terruhn
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

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.

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • M. Schmid
    • 1
  • M. Guttenbach
    • 1
  • H. Enders
    • 2
  • V. Terruhn
    • 3
  1. 1.Institut für Humangenetik der UniversitätUniversität WürzburgWürzburgGermany
  2. 2.Institut für Anthropologie und HumangenetikUniversität TübingenTübingenGermany
  3. 3.Frauenklinik I — GynäkologieNürnberg 91Germany