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Article

Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women.

American journal of medical genetics. Part A - 1 Sept 2025

Haskell Gloria T, Askree S Hussain, Kline Laura, Hasadsri Linda, Cabral Huong, Gadi Inder, Schwartz Stuart

Abstract excerpt

Uniparental Disomy (UPD) occurs when both copies of a chromosome or chromosomal segment originate from only one parent. Mosaic genome-wide UPD (mos gwUPD) is typically identified in cases of fetal demise and placental dysplasia or in prenatal cases, where imprinting effects are associated with abnormal ultrasound findings. Children with mos gwUPD and clinical features due to UPD-associated imprinting effects...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40304457
DOI: 10.1002/ajmg.a.64106

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