1997•Wuhan University Journal of Natural SciencesRequires access
The sex reversal of two mosaics with 45, XO/46, XX and 46, XY/47, XXY
Xu Yaoxian, Xie Mengxian, Ke Zhihe, Qi Ma, Zhang Xiyuan, Liu Lide
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Abstract
Sex-reversed males with 45, XO and 46, XX are associated with patients carrying a small male-determining region-SRY gene of the Y chromosome, while some 46, XY females can be the result of SRY gene mutations on Y chromosome. Duplication of DSS gene on Xp21 can also cause 46, XY individual with normal Y chromosome and an intact SRY gene develops as phenotypically sex reversed female. We report two patients of the sex reversal, one develops as a male carrying the karyotype 45, XO/46, XX, the other is a phenotypically female with karyotype 46, XY/47, XXY. The mosaic with 46, XY/47, XXY female might be reported for the first time.