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Article

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation.

Clinical genetics - 1 Jun 2026

Licata Anastasia Maria, Botzenhart Elke, Kloth-Stachnau Katja, Eggermann Thomas

Abstract excerpt

Copy number variations (CNVs) affecting the imprinted regions in 11p15.5 (imprinting centre 1 and 2/IC1, IC2) account for more than 2% of the molecular disturbances in Beckwith-Wiedemann and Silver-Russell syndrome (BWS, SRS) and are associated with a recurrence probability of up to 50%. However, their clinical impact can be challenging to estimate, as it depends on the type of imbalance, the parental origin of...

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Share to Beckwith-Wiedemann Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41528113
DOI: 10.1111/cge.70139
PMCID: PMC13167635

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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