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Article

Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.

Clinical epigenetics - 4 Feb 2021

Eggermann Thomas, Begemann Matthias, Pfeiffer Lutz

Abstract excerpt

BACKGROUND: Whereas duplications in 11p15.5 covering both imprinting centers (ICs) and their subordinated genes account for up to 1% of Beckwith-Wiedemann and Silver-Russell syndrome patients (BWS, SRS), the deletions in 11p15.5 reported so far only affect one of the ICs. In these cases, not only the size and gene content had an impact on the phenotype, but also the sex of the contributing parent influences the...

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Identifiers

PMID: 33541417
DOI: 10.1186/s13148-021-01020-w
PMCID: PMC7863277

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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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