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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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7324356

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

About this item

Full title

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

Publisher

England: Nature Publishing Group

Journal title

Journal of human genetics, 2020-08, Vol.65 (8), p.705-709

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7324356

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7324356

Other Identifiers

ISSN

1434-5161

E-ISSN

1435-232X

DOI

10.1038/s10038-020-0748-4

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