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Article

CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.

Scientific reports - 3 Jun 2016

Wang Binbin, Ji Taoyun, Zhou Xueya, Wang Jing, Wang Xi, Wang Jingmin, Zhu Dingliang, Zhang Xuejun, Sham Pak Chung, Zhang Xuegong, Ma Xu, Jiang Yuwu

Abstract excerpt

Rare copy number variations (CNVs) are a known genetic etiology in neurodevelopmental disorders (NDD). Comprehensive CNV analysis was performed in 287 Chinese children with mental retardation and/or development delay (MR/DD) and their unaffected parents. When compared with 5,866 ancestry-matched controls, 11~12% more MR/DD children carried rare and large CNVs. The increased CNV burden in MR/DD was predominantly...

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Identifiers

PMID: 27257017
DOI: 10.1038/srep25954
PMCID: PMC4891738

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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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