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Article

Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign.

Medicine - 17 Jun 2022

Yue Fagui, Zhang Hongguo, Luo Lili, Liu Ruizhi, Jing Jili

Abstract excerpt

ABSTRACT: Trisomy 6q is a recognizable syndrome which exhibits psychomotor/growth retardation, developmental/intellectual disabilities, feeding difficulties, facial dysmorphism, hearing loss, brain and heart malformations. The purpose of this study was to delineate the prenatal features of proximal 6q14.1 duplication in fetal period, which was rarely reported in clinic. Eight pregnant women who opted for...

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Identifiers

PMID: 35713440
DOI: 10.1097/MD.0000000000029369
PMCID: PMC9276112

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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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