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25.05.2018 | Case Report

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

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

Erschienen in: International Journal of Legal Medicine | Ausgabe 4/2019

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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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Titel: Non-pathological complete paternal uniparental isodisomy of chromosome 2 revealed in a maternity testing case
verfasst von: Man Chen
Jian Jiang
Chen Li
He Ren
Wei Chen
Zhiyong Liu
Feng Cheng
Jing Zhao
Tong Chen
Chuguang Chen
Jiangwei Yan
Publikationsdatum: 25.05.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: International Journal of Legal Medicine / Ausgabe 4/2019
Print ISSN: 0937-9827
Elektronische ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-018-1857-x

Springer Medizin

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

Abstract

Neu im Fachgebiet Rechtsmedizin

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Springer Medizin

Abstract

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