A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Sex-chromosome discordant chimerism (XX/XY chimerism) is a rare chromosomal disorder in humans. We report a boy with ambiguous genitalia and hypospadias, showing 46,XY[26]/46,XX[4] in peripheral blood cells. To clarify the mechanism of how this chimerism took place, we carried out whole-genome genotyping using a SNP array and microsatellite analysi...
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Full title
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7324356
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7324356
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-020-0748-4