Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite

摘要: True hermaphroditism in humans usually is associated with a 46,XX karyotype or mosaicism which admixtures of cells an XX and XY are seen. However, the mechanisms that cause such mosaicisms poorly understood. To date, rare exceptions, analyses hermaphrodites have been limited mostly to cytogenetic investigations. In this report, we describe 5-year-old patient true 46,XX/46,XY (ratio 38:12) lymphocytes, suggesting involvement two fertilization events. Microsatellite DNA polymorphisms distributed throughout genome were analyzed, investigate origin cell lines concerned. The results consistent double paternal single maternal genetic contributions. Possible would explain these findings discussed. most likely mechanism involves haploid ovum dividing parthenogenetically into ova, followed by fusion zygotes individual, at early embryonic stage.