Human Genetics

, Volume 64, Issue 1, pp 86–89

46,XX/46,XY chimerism in a phenotypically normal man

  • E. Schoenle
  • W. Schmid
  • A. Schinzel
  • M. Mahler
  • M. Ritter
  • T. Schenker
  • M. Metaxas
  • P. Froesch
  • E. R. Froesch
Clinical Case Reports

Summary

Some twenty cases of dispermic chimeras with the karyotype 46,XX/46,XY, discovered because of gonadal dysplasias or a true hermaphroditism, have been reported. This is a report of a phenotypically normal man with 46,XX/46,XY chimerism in whom a prepubertal finding of positive X-chromatin was interpreted as Klinefelter syndrome. The diagnosis was revised 11 years later when the family doctor, who doubted the earlier diagnosis because of the patient's normal-sized testes, sent him to an outpatient clinic. The young man was 23 years old, athletic (74kg, 180cm), with normal body proportions, normal sexual hair distribution, normal libido and potency, normal endocrine parameters, and a normal spermiogram. The karyotype revealed an XX/XY mosaic in a proportion of 1:2. An identical set of maternal markers (Q- and C-banding) was present in male and female cells. Differences were found with respect to two paternal markers. Furthermore, blood, serum, and red cell enzyme groups in five systems showed two phenotypes, again with duality of paternal origin. It is concluded that a positive X-chromatin in prepuperty, especially in the absence of supporting clinical features, must be followed by a karyotype study.

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Copyright information

© Springer-Verlag 1983

Authors and Affiliations

  • E. Schoenle
    • 1
  • W. Schmid
    • 2
  • A. Schinzel
    • 2
  • M. Mahler
    • 3
  • M. Ritter
    • 4
  • T. Schenker
    • 5
  • M. Metaxas
    • 5
  • P. Froesch
    • 1
  • E. R. Froesch
    • 1
  1. 1.Department of MedicineUniversity HospitalZürichSwitzerland
  2. 2.Institute of Medical GeneticsUniversity of ZurichZürichSwitzerland
  3. 3.Institute of Forensic MedicineUniversity of ZurichZürichSwitzerland
  4. 4.Institute of Anthropology and Human GeneticsUniversity of TuebingenTuebingenFRG
  5. 5.Blood Group Reference LaboratoryBlood Transfusion Service Swiss Red CrossZürichSwitzerland
  6. 6.University Children's HospitalZürichSwitzerland

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