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Article

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.

BMC medical genomics - 1 Sept 2021

Zhang Yuanyuan, Liu Xiaoliang, Gao Haiming, He Rong, Chu Guoming, Zhao Yanyan

Abstract excerpt

BACKGROUND: Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study was to determine the prevalence, genetic characteristics and clinical phenotypes of 17p11.2 deletion/duplication in Chinese children with development delay and in fetuses with potential congenital...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34470638
DOI: 10.1186/s12920-021-01065-z
PMCID: PMC8411507

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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