Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review

Abstract Background Chromosome 17p13.3 is a region of genomic instability associated with different neurodevelopmental diseases. The malformation spectrum of 17p13.3 microdeletions ranges from an isolated lissencephaly sequence to Miller-Dieker syndrome, while 17p13.3 microduplications result in aut...

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Bibliographic Details
Main Authors: Xiaoshan Ji, Qiong Xu, Yulan Lu, Bo Liu, Feifan Xiao, Qi Ni, Suzhen Xu, Renchao Liu, Gang Li, Bingbing Wu, Shuizhen Zhou, Huijun Wang
Format: Article
Language:English
Published: BMC 2025-05-01
Series:BMC Medical Genomics
Subjects:
17p13.3
Copy number variants
Single-nucleotide variation
Next-generation sequencing
Lissencephaly
Developmental delay
Online Access:https://doi.org/10.1186/s12920-025-02155-y
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