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Article

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

European journal of medical genetics - 1 Oct 2013

Keren Boris, Chantot-Bastaraud Sandra, Brioude Frédéric, Mach Corinne, Fonteneau Eric, Azzi Salah, Depienne Christel, Brice Alexis, Netchine Irène, Le Bouc Yves, Siffroi Jean-Pierre, Rossignol Sylvie

Abstract excerpt

Beckwith-Wiedemann syndrome is an overgrowth disorder with an increased risk of childhood tumors that results from a dysregulation of imprinted gene expression in the 11p15 region. Since epigenetic defects are the most frequent anomalies, first-line diagnostic methods involve methylation analysis. When paternal isodisomy is suspected, it should be confirmed by a second technique capable of distinguishing true...

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Identifiers

PMID: 23892181
DOI: 10.1016/j.ejmg.2013.06.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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