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.

• Authors: Man Chen, Jian Jiang, Chen Li, He Ren, Wei Chen, Zhiyong Liu, Feng Cheng, Jing Zhao, Tong Chen, Chuguang Chen, Jiangwei Yan
• Journal: International journal of legal medicine (Int J Legal Med) Vol. 133 Issue 4 Pg. 993-997 (Jul 2019) ISSN: 1437-1596 [Electronic] Germany
• PMID: 29802460 (Publication Type: Case Reports, Journal Article)

Chemical References

• Genetic Markers

Topics

• Child
• Chromosomes, Human, Pair 2 (genetics)
• Female
• Genetic Markers (genetics)
• Humans
• Microsatellite Repeats (genetics)
• Paternity
• Polymorphism, Single Nucleotide (genetics)
• Uniparental Disomy (genetics)