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A case of 46,XX/46,XX chimerism in a phenotypically normal woman

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Abstract

Chimerism is the presence of two genetically different cell lines within a single organism, which is rarely observed in humans. Usually, chimerism in the human body is revealed by the finding of an abnormal phenotype during a medical examination or is unexpectedly detected in routine genetic analysis. However, the incidence or underlying mechanism of chimerism remains unclear due to the lack of information on this infrequent biological event. A phenotypically normal woman with a 46,XX karyotype and atypical short tandem repeat (STR) allelic patterns observed in DNA analysis was investigated with various genetic testing methods, including STR typing based on capillary electrophoresis and massively parallel sequencing, genome-wide SNP array, and a differentially methylated parental allele assay (DMPA). The proband’s parents were not available for testing to discriminate the parental allelic contribution, but the parents’ alleles were recovered from testing the proband’s siblings. Based on the results consistently found in multiple analyses using STR and single nucleotide polymorphism (SNP) polymorphism markers, dispermic fertilization was suggested as the underlying mechanism. The application of various molecular genetic testing methods was used to elucidate the chimerism observed in the proband in this study. In the future, the development of novel genetic markers or techniques, such as DMPA, may have potential use in the investigation of chimerism.

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Authors and Affiliations

  1. Institute of Forensic and Anthropological Science, Seoul National University College of Medicine, Seoul, South Korea

    Sohee Cho, Hwan Young Lee, Moon-Young Kim, Sung-Hee Lyoo & Soong Deok Lee

  2. Department of Forensic Medicine, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-Gu, Seoul, 03080, South Korea

    Hwan Young Lee & Soong Deok Lee

Authors
  1. Sohee Cho
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  2. Hwan Young Lee
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  4. Sung-Hee Lyoo
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  5. Soong Deok Lee
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Correspondence to Soong Deok Lee.

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The study was approved by the ethical committee of the Institutional Review Board of the Seoul National University Hospital Biomedical Research Institute (IRB No. 1911-136-1080). Informed consent was obtained from all of the participants.

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The authors declare that they have no conflict of interest.

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Cho, S., Lee, H.Y., Kim, MY. et al. A case of 46,XX/46,XX chimerism in a phenotypically normal woman. Int J Legal Med 134, 2045–2051 (2020). https://doi.org/10.1007/s00414-020-02296-y

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  • DOI: https://doi.org/10.1007/s00414-020-02296-y

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