Work

P288: Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies

Year: 2024

Type: article

Abstract: Uniparental isodisomy is a rare genetic event that results in a zygote or cell line with two identical sister chromatids. Non-mosaic genome-wide paternal uniparental isodisomy is not compatible with life and results in a complete hydatidiform mole. However, a small number of children and one adult with mosaic genome-wide paternal uniparental isodisomy have been reported in the literature.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101184

Authors: Allissia Gilmartin, Elizabeth Chao, Kathryn Singh, Natalie Gallant

Institutions: University of California, Irvine, Ambry Genetics (United States)

Language: English

Topic: Genetic Syndromes and Imprinting

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200