P661: Uniparental disomy detection in a clinical trio genome sequencing cohort

Genetics in Medicine Open 2026 Open access

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Authors: Yuan Liu (88411), Pengfei Liu, Bi Weimin, Nichole Marie Owen, Eric C. Kao, Wilson CW. Wu, Xi LUO, Casey Thornton, Robert Rigobello, Michael Santana, Linyan Meng, Fan Xia
+3 more Christine Eng, Hongzheng Dai, Bo Yuan
DOI: 10.1016/j.gimo.2026.104151
Cited by: 0

Abstract

Uniparental disomy (UPD) refers to the inheritance of both homologous chromosomes from a single parent. UPD can be classified as isodisomy (iUPD), where two identical copies of a chromosome are from one parent, or heterodisomy (hUPD), where both homologs are from the same parent. Mixed UPD may occur when there are a portion portions of a chromosome show isodisomy and heterodisomyic in the remaining portions of the chromosome, typically reflecting resulting from meiotic recombination. Segmental UPD involves only a specific chromosomal region, often arising from mitotic recombination or postzygotic correction of meiotic nondisjunction.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genetic Syndromes and Imprinting

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104151–104151
Publication date
1 January 2026
Language
EN