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

Journal of Human Genetics volume 65, pages 705–709 (2020)Cite this article

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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.

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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).

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Author notes

  1. These authors contributed equally: Rie Kawamura, Takema Kato

Authors and Affiliations

  1. Department of Molecular Genetics, Fujita Health University, Toyoake, Japan

    Rie Kawamura, Takema Kato, Shunsuke Miyai, Fumihiko Suzuki, Yuki Naru, Maki Kato, Makiko Tsutsumi, Hidehito Inagaki, Hiroki Kurahashi & Mariko Taniguchi-Ikeda

  2. Division of Genetic Counseling, Kobe University Hospital, Kobe, Japan

    Keiko Tanaka, Miwako Nagasaka & Kazumoto Iijima

  3. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan

    Miwako Nagasaka & Kazumoto Iijima

  4. Department of Pediatrics, Comprehensive Perinatal Maternal and Child Medical Center, Himeji Red Cross Hospital, Himeji, Japan

    Tomoaki Ioroi

  5. Department of Pathology, Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan

    Makiko Yoshida

  6. Department of Urology, Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan

    Tomoya Nao

  7. Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Laura K. Conlin

  8. Department of Clinical Genetics, Fujita Health University Hospital, Toyoake, Japan

    Mariko Taniguchi-Ikeda

Authors
  1. Rie Kawamura
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  2. Takema Kato
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  3. Shunsuke Miyai
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  4. Fumihiko Suzuki
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  6. Maki Kato
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  10. Hidehito Inagaki
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  11. Tomoaki Ioroi
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  12. Makiko Yoshida
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  13. Tomoya Nao
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  14. Laura K. Conlin
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  15. Kazumoto Iijima
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  16. Hiroki Kurahashi
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  17. Mariko Taniguchi-Ikeda
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Corresponding author

Correspondence to Mariko Taniguchi-Ikeda.

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Kawamura, R., Kato, T., Miyai, S. et al. A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia. J Hum Genet 65, 705–709 (2020). https://doi.org/10.1038/s10038-020-0748-4

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  • DOI: https://doi.org/10.1038/s10038-020-0748-4

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