Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenatal Diagnosis

Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenatal Diagnosis

ABSTRACT Background Uniparental disomy (UPD) is a specific type of chromosomal variation in which both chromosomes of a homologous pair are inherited from the same parent. It is responsible for a wide range of disorders. Monosomy rescue and trisomy rescue are the two main hypotheses of UPD generatio...

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Bibliographic Details
Main Authors: Yanan Wang, Yong Zhou, Yuqiong Chai, Weiwei Zang, Hongchao Wang, Fan Yin, Qianqian Tan, Zhigang Chen
Format: Article
Language:English
Published: Wiley 2025-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
incomplete trisomy rescue
noninvasive prenatal screening
TBC1D24
trio‐WES
uniparental disomy
Online Access:https://doi.org/10.1002/mgg3.70091
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