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Article

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

BMC medical genomics - 21 Dec 2022

Liang Bin, Yu Donghong, Zhao Wantong, Wang Yan, Wu Xiaoqing, Chen Lingji, Lin Na, Huang Hailong, Xu Liangpu

Abstract excerpt

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 of 17p13.3 CNVs with varied sizes and gene content in prenatal and postnatal samples. METHODS: Eight cases with 17p13.3 CNVs...

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Identifiers

PMID: 36544138
DOI: 10.1186/s12920-022-01423-5
PMCID: PMC9773569

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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