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Article

Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.

American journal of medical genetics. Part A - 15 Dec 2007

Smith Adam C, Shuman Cheryl, Chitayat David, Steele Leslie, Ray Peter N, Bourgeois Jaqueline, Weksberg Rosanna

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk. BWS can be associated with genetic and/or epigenetic alterations that modify imprinted gene expression on chromosome 11p15.5. Somatic mosaicism for paternal uniparental disomy (UPD) of chromosome 11p15, found in 20% of BWS patients, is associated with...

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Identifiers

PMID: 18000906
DOI: 10.1002/ajmg.a.32030

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Source receipt: pubmed, retrieved 7 Sept 2026.

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