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

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Abstract
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 screening based on a microarray genotyping technique. Six patients with the diagnosis of both complete or segmental UPD including Prader‐Willi syndrome (PWS; matUPD15), Angelman syndrome (AS; patUPD15), Silver‐Russell syndrome (SRS; matUPD7), Beckwith‐Wiedemann syndrome (BWS; patUPD11p), pseudohypoparathyroidism (PHP; patUPD20q) and a rare chromosomal rearrangement (patUPD2p, matUPD2q), were genotyped using the GeneChip® Human Mapping 10K Array. Our results demonstrate the presence of UPD in the patients with high efficiency and reveal clues about the mechanisms of UPD formation. We thus conclude that array based SNP genotyping is a fast, cost‐effective, and reliable approach for whole genome UPD screening. Hum Mutat 26(2), 1–7, 2005.