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Article

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.

European journal of human genetics : EJHG - 1 Jul 2013

Gogiel Magdalena, Begemann Matthias, Spengler Sabrina, Soellner Lukas, Göretzlehner Ulf, Eggermann Thomas, Strobl-Wildemann Gertrud

Abstract excerpt

Uniparental disomy (UPD) of single chromosomes is a well-known molecular aberration in a group of congenital diseases commonly known as imprinting disorders (IDs). Whereas maternal and/or paternal UPD of chromosomes 6, 7, 11, 14 and 15 are associated with specific IDs (Transient neonatal diabetes mellitus, Silver-Russell syndrome, Beckwith-Wiedemann syndrome (BWS), upd(14)-syndromes, Prader-Willi syndrome,...

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Identifiers

PMID: 23188046
DOI: 10.1038/ejhg.2012.259
PMCID: PMC3722953

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Source receipt: pubmed, retrieved 7 Sept 2026.

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