Article
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.
Journal of human genetics - 1 Aug 2020
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
Abstract excerpt
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 analysis. The B-allele frequency of the SNP array showed a mixture of...
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