TY - JOUR
T1 - A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia
AU - Kawamura, Rie
AU - Kato, Takema
AU - Miyai, Shunsuke
AU - Suzuki, Fumihiko
AU - Naru, Yuki
AU - Kato, Maki
AU - Tanaka, Keiko
AU - Nagasaka, Miwako
AU - Tsutsumi, Makiko
AU - Inagaki, Hidehito
AU - Ioroi, Tomoaki
AU - Yoshida, Makiko
AU - Nao, Tomoya
AU - Conlin, Laura K.
AU - Iijima, Kazumoto
AU - Kurahashi, Hiroki
AU - Taniguchi-Ikeda, Mariko
N1 - Publisher Copyright:
© 2020, The Author(s), under exclusive licence to The Japan Society of Human Genetics.
PY - 2020/8/1
Y1 - 2020/8/1
N2 - 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 three and five allele combinations, which excluded mosaicism but not chimerism, and suggested the fusion of two embryos or a shared parental haplotype between the two parental cells. All microsatellite markers showed a single maternal allele. From these results, we concluded that this XX/XY chimera is composed of two different paternal alleles and a single duplicated maternal genome. This XX/XY chimera likely arose from a diploid maternal cell that was formed via endoduplication of the maternal genome just before fertilization, being fertilized with both X and Y sperm.
AB - 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 three and five allele combinations, which excluded mosaicism but not chimerism, and suggested the fusion of two embryos or a shared parental haplotype between the two parental cells. All microsatellite markers showed a single maternal allele. From these results, we concluded that this XX/XY chimera is composed of two different paternal alleles and a single duplicated maternal genome. This XX/XY chimera likely arose from a diploid maternal cell that was formed via endoduplication of the maternal genome just before fertilization, being fertilized with both X and Y sperm.
UR - https://www.scopus.com/pages/publications/85083056653
UR - https://www.scopus.com/pages/publications/85083056653#tab=citedBy
U2 - 10.1038/s10038-020-0748-4
DO - 10.1038/s10038-020-0748-4
M3 - Article
C2 - 32277176
AN - SCOPUS:85083056653
SN - 1434-5161
VL - 65
SP - 705
EP - 709
JO - Journal of Human Genetics
JF - Journal of Human Genetics
IS - 8
ER -