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

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.