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Due to the variation, genetic testing is the only way to reliably make a diagnosis.

46, XX/46, XY is possible if there is direct observation of one or more of the following: At puberty, a mix of male and female characteristics may emerge.

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A female pseudo-hermaphrodite has ovaries but, has male or ambiguous characteristics externally.Some individuals will experience deepening of the voice and secondary hair development, while others may experience breast tissue development.Diagnosing a chimera is particularly difficult due to the random distribution of 46, XX and 46, XY cells within the body.An organ might be made up of a mix of 46, XX and 46, XY, but it may also be made up entirely of one genotype only.When that is the case, no abnormalities are noted and other types of tissues need to be analyzed.46, XX/46, XY is a chimeric genetic disorder caused by having two distinct cell populations within the body.

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