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

So Youn Shin, Han-Wook Yoo, Beom Hee Lee, Kun Suk Kim, Eul-Ju Seo

Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.

American journal of medical genetics. Part A 2012 Sep

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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. Copyright © 2012 Wiley Periodicals, Inc.

Citation

So Youn Shin, Han-Wook Yoo, Beom Hee Lee, Kun Suk Kim, Eul-Ju Seo. Identification of the mechanism underlying a human chimera by SNP array analysis. American journal of medical genetics. Part A. 2012 Sep;158A(9):2119-23