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.
KeywordsParentage testing Uniparental isodisomy Chromosome 2 Short tandem repeat (STR) Whole-genome SNPs
This project was supported by the National Natural Science Foundation of China (no. 81330073) and CAS Key Program (KGFZD-135-16-021).
Compliance with ethical standards
Conflict of interest
The authors declare that they have no competing interests.
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