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

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 genot...

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Detalles Bibliográficos
Publicado en:J Hum Genet
Main Authors: Kawamura, Rie, Kato, Takema, Miyai, Shunsuke, Suzuki, Fumihiko, Naru, Yuki, Kato, Maki, Tanaka, Keiko, Nagasaka, Miwako, Tsutsumi, Makiko, Inagaki, Hidehito, Ioroi, Tomoaki, Yoshida, Makiko, Nao, Tomoya, Conlin, Laura K., Iijima, Kazumoto, Kurahashi, Hiroki, Taniguchi-Ikeda, Mariko
Formato: Artigo
Idioma:Inglês
Publicado: Springer Singapore 2020
Assuntos:
Brief Communication
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7324356/
https://ncbi.nlm.nih.gov/pubmed/32277176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-0748-4
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