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Article

Genome-wide UPD screening in patients with intellectual disability.

European journal of human genetics : EJHG - 1 Oct 2014

Schroeder Christopher, Ekici Arif Bülent, Moog Ute, Grasshoff Ute, Mau-Holzmann Ulrike, Sturm Marc, Vosseler Vanessa, Poths Sven, Rappold Gudrun, Riess Angelika, Riess Olaf, Dufke Andreas, Bonin Michael

Abstract excerpt

Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. It may occur as isodisomy, heterodisomy or a combination of both and may involve only chromosome segments. UPD can affect each chromosome. The incidence is estimated to be around 1:3500 in live births. Some parts of chromosomes are subject to 'parent-of-origin imprinting' and the phenotypic effect in UPD syndromes is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24801762
DOI: 10.1038/ejhg.2014.63
PMCID: PMC4169544

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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