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Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review

Abstract Background Uniparental disomy (UPD) is a rare genetic condition leading to potential disease risks. Maternal UPD of chromosome 6 upd(6)mat is exceptionally rare, with limited cases reported. This study reported two new cases of upd(6)mat and reviewed the literature of previous cases. Case p...

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Main Authors: Yan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, Victor Wei Zhang, Chang Dong, Lei Xu, Fang Liu
Format: Artigo
Language:Inglês
Published: BMC 2024-01-01
Series:Molecular Cytogenetics
Subjects:
Uniparental disomy
Intrauterine growth restriction
Prenatal diagnosis
Maternal UPD6
Online Access:https://doi.org/10.1186/s13039-023-00670-0
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