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45,X/46,XY MOSAICISM AND Y CHROMOSOME ABNORMALITY

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A highly diverse phenotype is encountered in 45,X/46,XY mosaicism since the presence of a Y‐bearing cell line may induce some testicular differentiation. Such individuals may appear typically male or female or may possess ambiguous external genitalia with varied genital duct development. The prevalence of gonadal tumours in these patients can vary with phenotype and appears to be higher in those with a female phenotype [30].

Ridley's The Vulva

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