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Article

Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.

Pediatric blood & cancer - 1 Mar 2017

Bachmann Nadine, Crazzolara Roman, Bohne Florian, Kotzot Dieter, Maurer Kathrin, Enklaar Thorsten, Prawitt Dirk, Bergmann Carsten

Abstract excerpt

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an early-onset overgrowth disorder with a high risk for embryonal tumors. It is mainly caused by dysregulation of imprinted genes on chromosome 11p15.5; however, the driving forces in the development of tumors are not fully understood. PROCEDURE: We report on a female patient presenting with macrosomia, macroglossia, organomegaly and extensive bilateral...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 11

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Share to Insulin-Like Growth Factor II

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Source

Identifiers

PMID: 27650505
DOI: 10.1002/pbc.26241

Genes

IGF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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