Human Genetics

, Volume 90, Issue 4, pp 346–349 | Cite as

A 47,XXY female with unusual genitalia

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


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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  1. Arnemann J, Cooke HJ, Jakubiczka S, Schmidtke J (1985) Human Y-chromosome derived cloned DNA sequences (8th International Workshop on Human Gene Mapping). Cytogenet Cell Genet 40:571Google Scholar
  2. Bartsch-Sandhoff M, Stephan L, Röhrborn G Pawlowitzki IH, Scholz W (1976) Ein Fall von testiculärer Feminisierung mit dem Karyotyp 47,XXY. Hum Genet 31:59–65Google Scholar
  3. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths B, Goodfellow PN, Fellous M (1990) Genetic evidence equating SRY and the testis determining factor. Nature 348:448–450Google Scholar
  4. Bishop C, Guellaen G, Geldwerth D, Fellous M, Weissenbach J (1984) Extensive sequence homologies between Y and other chromosomes. J Mol Biol 173:403–417Google Scholar
  5. Brown CJ, Goss SJ, Lubahn DB, Joseph DR, Wilson EM, French FS, Willard HF (1989) Androgen receptor locus on the human X chromosome: regional localization to Xq11–12 and description of a DNA polymorphism. Am J Hum Genet 44:264–269Google Scholar
  6. Caspersson T, Zech L, Johannson C, Modest EJ (1970) Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30:215–277Google Scholar
  7. Cooke H (1976) Repeated sequence specific to human males. Nature 262:182–186Google Scholar
  8. Feinberg AP, Vogelstein B (1984) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 137:266–267PubMedGoogle Scholar
  9. Fraser NJ, Boyd Y, Brownlee GG, Craig IW (1987) Multi-allelic RFLP for M27β, an anonymous single copy genomic clone at Xp11.3-Xcen (HGM provisional no. DXS255). Nucleic Acids Res 15:9616Google Scholar
  10. Geldwerth D, Bishop C, Guellaen G, Koenig M, Vergnaud G, Mandel JL, Weissenbach J (1985) Extensive DNA sequence homologies between the human Y and the long arm of the X chromosome. EMBO J 4:1739–1743Google Scholar
  11. Gerli M, Migliorini G, Bocchini V, Venti G, Ferrarese R, Donti E, Rosi G (1979) A case of complete testicular feminization and 47,XXY karyotype. J Med Genet 16:480–483Google Scholar
  12. German J, Vesell M (1966) Testicular feminization in monozygotic twins with 47 chromosomes (XXY). Ann Genet 9:5–8Google Scholar
  13. German J, Simpson JL, Morillo-Cucci G, Passarge E, Demayo AP (1973) Testicular feminization and inguinal hernia. Lancet I:891Google Scholar
  14. Guellaen G, Casanova M, Bishop C, Geldwerth D, Andre G, Fellous M, Weissenbach J (1984) Human XX males with single-copy DNA fragments. Nature 307:172–173Google Scholar
  15. Hassold T, Jacobs PA (1984) Trisomy in man. Annu Rev Genet 18:69–97Google Scholar
  16. Hawkins JR, Taylor A, Berta P, Levilliers J, van der Auwera B, Goodfellow PN (1992) Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet 88:471–474Google Scholar
  17. Hook EB, Hamerton JL (1977) The frequency of chromosome abnormalities detected in consecutive newborn studies. In: Hook EB, Porter IH (eds) Population cytogenetics. Academic Press, New York, pp 63–79Google Scholar
  18. Jacobs PA, Strong JA (1959) A case of human intersexuality having a possible XXY sex determining mechanism. Nature 183:302–303Google Scholar
  19. Jacobs PA, Hassold TJ, Whittington E, Butler G, Collyer S, Keston M, Lee M (1988) Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet 52:93–109Google Scholar
  20. Jagiello G, Atwell JD (1962) Prevalence of testicular feminization. Lancet 1:329Google Scholar
  21. Jäger RJ, Anvret M, Hall K, Scherer G (1990) A human XY female with a frameshift mutation in SRY, a candidate testis determining gene. Nature 348:452–454Google Scholar
  22. Mahtani MM, Willard HF (1988) A primary genetic map of the pericentromeric region of the human X chromosome. Genomics 2:294–301Google Scholar
  23. Morris JM (1953) The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 65:1192–1211Google Scholar
  24. Müller U, Donion TA, Kunkel SM, Lalande M, Latt SA (1987) Y-190, a DNA probe for the sensitive detection of Y-derived marker chromosomes and mosaicism. Hum Genet 75:109–113Google Scholar
  25. Müller U, Schneider NR, Marks JF, Kupke KG, Wilson GN (1990) Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization. Hum Genet 84:289–292Google Scholar
  26. Page DC, Harper ME, Love J, Botstein D (1984) Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature 311:119–123Google Scholar
  27. Pearson PL, Kidd KK, Willard HF (1987) Human gene mapping by recombinant DNA techniques. (9th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 46:390–566Google Scholar
  28. Pergament E, Heimler A, Snap P (1973) Testicular feminization and inguinal hernia. Lancet II:740–741Google Scholar
  29. Schinzel A (1984) Catalogue of unbalanced chromosome aberrations in man. de Gruyter, New York Berlin, pp 790–793Google Scholar
  30. Schmid M, Guttenbach M, Nanda I, Studer R, Epplen JT (1990) Organization of DYZ2 repetitive DNA on the human Y chromosome. Genomics 6:212–218Google Scholar
  31. Schweizer D, Ambros P, Andrle M (1978) Modification of DAPI banding on human chromosomes by prestaining with a DNA binding oligopeptide antibiotic, distamycin A. Exp Cell Res 111:327–332Google Scholar
  32. Sinclair HA, Berta P, Palmer MS, Hawkins JR, Griffiths B, Smith M, Foster J, Frischauf A-M, Lovell-Badge R, Goodfellow PN (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240–244Google Scholar
  33. Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75:304–306PubMedGoogle Scholar
  34. Willard HF, Smith KD, Sutherland J (1983) Isolation and characterization of a major tandem repeat family from the human X chromosome. Nucleic Acids Res 11:2017–2033Google Scholar
  35. Yang TP, Hansen SK, Oishi KK, Ryder OA, Hamkalo BA (1982) Characterization of a cloned repetitive DNA sequence concentrated on the human X chromosome. Proc Natl Acad Sci USA 79:6593–6597Google Scholar

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

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