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Article

Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.

Human molecular genetics - 15 Feb 2013

Sun Zhe, Liu Pengfei, Jia Xueyuan, Withers Marjorie A, Jin Li, Lupski James R, Zhang Feng

Abstract excerpt

Copy number variations (CNVs) in the human genome contribute significantly to disease. De novo CNV mutations arise via genomic rearrangements, which can occur in 'trans', i.e. via interchromosomal events, or in 'cis', i.e. via intrachromosomal events. However, what molecular mechanisms occur between chromosomes versus between or within chromatids has not been systematically investigated. We hypothesized that...

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Identifiers

PMID: 23161748
DOI: 10.1093/hmg/dds482
PMCID: PMC3554201

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Source receipt: pubmed, retrieved 7 Sept 2026.

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