Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes

Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes

Uniparental disomy (UPD) refers to as both homologous chromosomes inherited from only one parent without identical copies from the other parent. Studies on clinical phenotypes in UPDs are usually focused on the documented UPD 6, 7, 11, 14, 15, and 20, which directly lead to imprinting disorders. Thi...

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Bibliographic Details
Main Authors: Qi Chen, Yunpeng Chen, Lin Shi, Ying Tao, Xiaoguang Li, Xiaolan Zhu, Yan Yang, Wenlin Xu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Genetics
Subjects:
uniparental disomy
chromosmal microarray analysis
whole exome sequencing
chromosome aberration
phenotype
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1232059/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1232059/full

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