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A rapid microarray based whole genome analysis for detection of uniparental disomy

1 Jan 2005

Abstract excerpt

To date, uniparental disomy (UPD) with phenotypic relevance is described for different chromosomes and it is likely that additional as yet unidentified UPD phenotypes exist. Due to technical difficulties and limitations of time and resources, molecular analyses for UPD using microsatellite markers are only performed in cases with specific phenotypic features. In this study, we carried out a whole genome UPD...

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Genetic Syndromes and Imprinting
Hedgehog Signaling Pathway Studies
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 15968682
DOI: 10.1002/humu.20198

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