Summary
A 24-year-old male with ambiguous genitalia was found to have a predominantly 45,X chromosomal constitution. The clinical and cytological findings in this patient are presented in the report. The possible mode of origin of this aberrant phenotype due to chromosome mosaicism of 45,X/46,XY type during early embryogenesis and subsequent elimination of 46,XY cell line is discussed.
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Bhatia, P., Pai, R.A. & Varma, K.P.S. X0 Karyotype in a phenotypic male. Hum Genet 19, 337–340 (1973). https://doi.org/10.1007/BF00278415
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DOI: https://doi.org/10.1007/BF00278415