| Literature DB >> 32277176 |
Rie Kawamura1, Takema Kato1, Shunsuke Miyai1, Fumihiko Suzuki1, Yuki Naru1, Maki Kato1, Keiko Tanaka2, Miwako Nagasaka2,3, Makiko Tsutsumi1, Hidehito Inagaki1, Tomoaki Ioroi4, Makiko Yoshida5, Tomoya Nao6, Laura K Conlin7, Kazumoto Iijima2,3, Hiroki Kurahashi1, Mariko Taniguchi-Ikeda8,9.
Abstract
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.Entities:
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Year: 2020 PMID： 32277176 PMCID： PMC7324356 DOI： 10.1038/s10038-020-0748-4
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172