Identification of the mechanism underlying a human chimera by SNP array analysis

Authors

  • So Youn Shin,

    1. Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
    2. Department of Pediatrics, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
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  • Han-Wook Yoo,

    1. Department of Pediatrics, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
    2. Medical Genetics Center, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
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  • Beom Hee Lee,

    1. Department of Pediatrics, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
    2. Medical Genetics Center, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea
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  • Kun Suk Kim,

    1. Department of Urology, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
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  • Eul-Ju Seo

    Corresponding author
    1. Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
    2. Department of Pediatrics, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
    • Department of Laboratory Medicine, Asan Medical Center, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 138-736, Korea.
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  • All authors have no conflicts to declare.

  • How to Cite this Article: Shin SY, Yoo H-W, Lee BH, Kim KS, Seo E-J. 2012. Identification of the mechanism underlying a human chimera by SNP array analysis. Am J Med Genet Part A. 158A:2119–2123.

Abstract

Human chimerism resulting from the fusion of two different zygotes is a rare phenomenon. Two mechanisms of chimerism have been hypothesized: dispermic fertilization of an oocyte and its second polar body and dispermic fertilization of two identical gametes from parthenogenetic activation, and these can be identified and discriminated using DNA polymorphism. In the present study we describe a patient with chimerism presenting as a true hermaphrodite and applied single nucleotide polymorphism array analysis to demonstrate dispermic fertilization of two identical gametes from parthenogenetic activation as the underlying mechanism at the whole chromosome level. We suggest that application of genotyping array analysis to the diagnostic process in patients with disorders of sex development will help identify more human chimera patients and increase our understanding of the underlying mechanisms. © 2012 Wiley Periodicals, Inc.

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