45,X/46,XY mosaicism, also known as X0/XY mosaicism, is a rare form of mosaicism in humans. The literature on this condition suggests that most individuals with this karyotype have apparently normal male genitalia, and a minority with female genitalia, with a significant number of individuals showing genital abnormalities or intersex characteristics. A significantly higher than normal number of other developmental abnormalities are also found in individuals with X0/XY mosaicism.
- Chang, H. J.; Clark, R. D.; Bachman, H. (1990). "The phenotype of 45,X/46,XY mosaicism: An analysis of 92 prenatally diagnosed cases". American Journal of Human Genetics 46 (1): 156–167. PMC 1683543. PMID 2294747.
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