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Article

Global analysis of uniparental disomy using high density genotyping arrays.

Journal of medical genetics - 1 Nov 2005

Bruce S, Leinonen R, Lindgren C M, Kivinen K, Dahlman-Wright K, Lipsanen-Nyman M, Hannula-Jouppi K, Kere J

Abstract excerpt

BACKGROUND: Uniparental disomy (UPD), the inheritance of both copies of a chromosome from a single parent, has been identified as the cause for congenital disorders such as Silver-Russell, Prader-Willi, and Angelman syndromes. Detection of UPD has largely been performed through labour intensive screening of DNA from patients and their parents, using microsatellite markers. METHODS: We applied high density single...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15879501
DOI: 10.1136/jmg.2005.032367
PMCID: PMC1735941

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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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