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01-07-2019 | Case Report

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

Authors: Man Chen, Jian Jiang, Chen Li, He Ren, Wei Chen, Zhiyong Liu, Feng Cheng, Jing Zhao, Tong Chen, Chuguang Chen, Jiangwei Yan

Published in: International Journal of Legal Medicine | Issue 4/2019

Abstract

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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Title: Non-pathological complete paternal uniparental isodisomy of chromosome 2 revealed in a maternity testing case
Authors: Man Chen
Jian Jiang
Chen Li
He Ren
Wei Chen
Zhiyong Liu
Feng Cheng
Jing Zhao
Tong Chen
Chuguang Chen
Jiangwei Yan
Publication date: 01-07-2019
Publisher: Springer Berlin Heidelberg
Published in: International Journal of Legal Medicine / Issue 4/2019
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-018-1857-x

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

Abstract

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Abstract

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