46, XX/XY

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46, XX/XY is a rare chromosomal abnormality. It is a form of mosaicism where some cells in the body have XX and others XY chromosomes. Because females have XX chromosomes and males have XY chromosomes, it can cause intersex conditions.[1][2]


  1. ^ Marchi, M. De; Carbonara, A. O.; Carozzi, F.; Massara, F.; Belforte, L.; Moldsatti, G. M.; Bisbocci, D.; Passarino, M. P.; Palestro, G. (2008). "True hermaphroditism with XX/XY sex chromosome mosaicism: Report of a case". Clinical Genetics 10 (5): 265–72. doi:10.1111/j.1399-0004.1976.tb00047.x. PMID 991437. 
  2. ^ Fitzgerald, PH; Donald, RA; Kirk, RL (1979). "A true hermaphrodite dispermic chimera with 46,XX and 46,XY karyotypes". Clinical genetics 15 (1): 89–96. doi:10.1111/j.1399-0004.1979.tb02032.x. PMID 759058.