Non-pathological complete paternal uniparental isodisomy of chromosome 2 revealed in a maternity testing case


We present a duo paternity test case to assess the biological relationship between a woman and her female child. After analyzing 57 autosomal and 19 X-chromosomal short tandem repeat loci, mother–daughter exclusions were discovered at four loci, which were all located on chromosome 2. Further testing of whole-genome single nucleotide polymorphisms confirmed that the daughter had complete uniparental disomy (UPD) of chromosome 2. This study presents a cautionary case demonstrating that hasty decisions of parentage exclusion should not be made when genetic markers on the same chromosome do not conform to Mendel’s laws due to UPD.

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This project was supported by the National Natural Science Foundation of China (no. 81330073) and CAS Key Program (KGFZD-135-16-021).

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Correspondence to Jiangwei Yan.

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Chen, M., Jiang, J., Li, C. et al. Non-pathological complete paternal uniparental isodisomy of chromosome 2 revealed in a maternity testing case. Int J Legal Med 133, 993–997 (2019).

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  • Parentage testing
  • Uniparental isodisomy
  • Chromosome 2
  • Short tandem repeat (STR)
  • Whole-genome SNPs