Copy Number Variation Analysis of 5p Deletion Provides Accurate Prenatal Diagnosis and Reveals Candidate Pathogenic Genes

Copy Number Variation Analysis of 5p Deletion Provides Accurate Prenatal Diagnosis and Reveals Candidate Pathogenic Genes

Objective5p deletion syndrome, that characterized by cat-like cry and peculiar timbre of voice, is believed to be one of the most common pathogenic copy number variations (CNVs). Variable critical regions on 5p involving a variety of genes contribute to the phenotypic heterogeneity without specific...

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Bibliographic Details
Main Authors: Guoming Chu, Pingping Li, Juan Wen, Gaoyan Zheng, Yanyan Zhao, Rong He
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Medicine
Subjects:
chromosomal translocation
copy number variation
5p deletion syndrome
6p duplication
WGS
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2022.883565/full

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https://www.frontiersin.org/articles/10.3389/fmed.2022.883565/full

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