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Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

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Most cases of Klinefelter syndrome (KS) have 47,XXY karyotype. We reported the first case of 46,XX/47,XXY KS whose genital ambiguity was detected prenatally with postnatal confirmation of the mosaicism and ovotesticular disorder of sex development (OT-DSD). Th... ...