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 - Funding Information:
Acknowledgements We would like to thank the patient and the family for participating in this study. We would also like to thank Dr Akiko Helena Popiel for valuable comments, Tatsuro Ikeda for drawing of the Figures. This study was supported by a grant-in-aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan (grant number 17K00481 to RK, to 17K11259 to TK).
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.
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U2 - 10.1038/s10038-020-0748-4
DO - 10.1038/s10038-020-0748-4
M3 - Article
C2 - 32277176
AN - SCOPUS:85083056653
VL - 65
SP - 705
EP - 709
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 8
ER -