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Article

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

Human genetics - 1 Mar 2014

Baskin Berivan, Choufani Sanaa, Chen Yi-An, Shuman Cheryl, Parkinson Nicole, Lemyre Emmanuelle, Micheil Innes A, Stavropoulos Dimitri J, Ray Peter N, Weksberg Rosanna

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS), an overgrowth and tumor predisposition syndrome is clinically heterogeneous. Its variable presentation makes molecular diagnosis particularly important for appropriate counseling of patients with respect to embyronal tumor risk and recurrence risk. BWS is characterized by macrosomia, omphalocele, and macroglossia. Additional clinical features can include hemihyperplasia,...

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Identifiers

PMID: 24154661
DOI: 10.1007/s00439-013-1379-z

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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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