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

@article{AltugTeber2005ARM,
  title={A rapid microarray based whole genome analysis for detection of uniparental disomy.},
  author={Ozge Altug-Teber and Andreas Dufke and Sven Poths and Ulrike Mau-Holzmann and Murat Bastepe and Laurence Colleaux and Val{\'e}rie Cormier-Daire and Thomas Eggermann and G Gillessen-kaesbach and Michael Bonin and Olaf Riess},
  journal={Human mutation},
  year={2005},
  volume={26 2},
  pages={153-9}
}
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… CONTINUE READING

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