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

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.

journal_name

Int J Legal Med

authors

Chen M,Jiang J,Li C,Ren H,Chen W,Liu Z,Cheng F,Zhao J,Chen T,Chen C,Yan J

doi

10.1007/s00414-018-1857-x

subject

Has Abstract

pub_date

2019-07-01 00:00:00

pages

993-997

issue

4

eissn

0937-9827

issn

1437-1596

pii

10.1007/s00414-018-1857-x

journal_volume

133

pub_type

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