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Article

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.

The journal of gene medicine - 1 Apr 2017

Wang Hong-Dan, Liu Lin, Wu Dong, Li Tao, Cui Cun-Ying, Zhang Lian-Zhong, Wang Cheng-Zeng

Abstract excerpt

BACKGROUND: Little information is available regarding the penetrance of 1q21.1 copy number variants (CNVs). In the present study, we explored the clinical significance of 1q21.1 microdeletion or microduplication. METHODS: In four families, chromosome karyotype was analyzed using G-banding karyotype analysis technology. CNVs were detected using array-comparative genomic hybridization (aCGH) and then a quantitative...

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Identifiers

PMID: 28220983
DOI: 10.1002/jgm.2948
PMCID: PMC5413856

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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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