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Article

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.

American journal of medical genetics. Part A - 1 Jan 2017

Jurkiewicz Dorota, Kugaudo Monika, Skórka Agata, Śmigiel Robert, Smyk Marta, Ciara Elżbieta, Chrzanowska Krystyna, Krajewska-Walasek Małgorzata

Abstract excerpt

Defects of 11p15.5 imprinting result in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS) characterized by overgrowth and Silver-Russell syndrome (SRS) associated with growth retardation. In a small group of patients with BWS and SRS, copy number variations (CNVs) involving the 11p15.5 region are observed; and their effects depend on the localization, size, and the parental mode of...

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Share to Beckwith-Wiedemann Syndrome
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Gene Amplification

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Share to Insulin-Like Growth Factor II

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Source

Identifiers

PMID: 27612309
DOI: 10.1002/ajmg.a.37964

Genes

IGF2

Provenance

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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A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.PMID 27612309Read ↗

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New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.Semantic proximity Read ↗

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