SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

@article{Keren2013SNPAI,
  title={SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.},
  author={Boris Keren and Sandra Chantot-Bastaraud and Fr{\'e}d{\'e}ric Brioude and Corinne Mach and Eric Fonteneau and Salah Azzi and Christel Depienne and Alexis Brice and Ir{\`e}ne Netchine and Yves le Bouc and J P Siffroi and Sylvie Rossignol},
  journal={European journal of medical genetics},
  year={2013},
  volume={56 10},
  pages={
          546-50
        }
}
Beckwith-Wiedemann syndrome is an overgrowth disorder with an increased risk of childhood tumors that results from a dysregulation of imprinted gene expression in the 11p15 region. Since epigenetic defects are the most frequent anomalies, first-line diagnostic methods involve methylation analysis. When paternal isodisomy is suspected, it should be confirmed by a second technique capable of distinguishing true 11p15 paternal disomy (patUPD) from paternal 11p15 duplication or 11p15 trisomy. We… CONTINUE READING
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