Publication: 46,XX/46,XY chimerism in a phenotypically normal man
46,XX/46,XY chimerism in a phenotypically normal man
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Schoenle, E., Schmid, W., Schinzel, A., Mahler, M., Ritter, M., Schenker, T., Metaxas, M., Froesch, P., & Froesch, E. R. (1983). 46,XX/46,XY chimerism in a phenotypically normal man. Human Genetics, 64(1), 86–89. https://doi.org/10.1007/bf00289485
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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,
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Schoenle, E., Schmid, W., Schinzel, A., Mahler, M., Ritter, M., Schenker, T., Metaxas, M., Froesch, P., & Froesch, E. R. (1983). 46,XX/46,XY chimerism in a phenotypically normal man. Human Genetics, 64(1), 86–89. https://doi.org/10.1007/bf00289485