Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience

Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience

Abstract Background 17p13.3 microdeletions or microduplications (collectively known as copy number variants or CNVs) have been described in individuals with neurodevelopmental disorders. However, 17p13.3 CNVs were rarely reported in fetuses. This study aims to investigate the clinical significance o...

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Bibliographic Details
Main Authors: Bin Liang, Donghong Yu, Wantong Zhao, Yan Wang, Xiaoqing Wu, Lingji Chen, Na Lin, Hailong Huang, Liangpu Xu
Format: Article
Language:English
Published: BMC 2022-12-01
Series:BMC Medical Genomics
Subjects:
Miller–Dieker syndrome
17p13.3 Duplication syndrome
CNV involving 17p13.3
Single nucleotide polymorphism array
Genetic analysis
Online Access:https://doi.org/10.1186/s12920-022-01423-5

Internet

https://doi.org/10.1186/s12920-022-01423-5

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