Short Communications

Human Genetics

, Volume 82, Issue 2, pp 197-198

First online:

Demonstration of spontaneous XX/XY chimerism by DNA fingerprinting

  • C. M. FarberAffiliated withDepartment of Immunology, Cliniques universitaires Erasme
  • , M. GeorgesAffiliated withDepartment of Genetics, Ecole Vétérinaire, Université de Liège
  • , G. De BockAffiliated withDepartment of Gynaecology and Obstetrics, Genees-en Heelkundige Instituut
  • , A. VerhestAffiliated withDepartment of Pathology, Cliniques Universitaires Erasme
  • , P. SimonAffiliated withDepartment of Gynaecology and Obstetrics, Cliniques Universitaires Eransme
  • , M. Verschraegen-SpaeAffiliated withCenter of Medical Genetics, Gent Universiteit
  • , G. VassartAffiliated withInstitute of Interdisciplinary Research and Department of Genetics, Université Libre de Bruxelles, Faculty of Medicine

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The M13 bacteriophage probe, which makes possible the establishment of DNA fingerprints, was used to study a phenotypically normal woman with a 46XY karyotype and her twin brother. Identical fingerprints and positive hybridzation with a series of Y-specific probes were obtained on blood samples from the siblings. DNA from a skin biopsy of the woman yielded a clearly different pattern and displayed no Y-specific hybridization, indicating that she is a spontaneous chimera. This study illustrates the use of DNA fingerprinting as a powerful and simple aid to the diagnosis of natural chimerism.