Summary
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.
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Farber, C.M., Georges, M., De Bock, G. et al. Demonstration of spontaneous XX/XY chimerism by DNA fingerprinting. Hum Genet 82, 197–198 (1989). https://doi.org/10.1007/BF00284058
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DOI: https://doi.org/10.1007/BF00284058