Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

@inproceedings{Ibrahim2014MethylationAA,
  title={Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects},
  author={Abdulla Ibrahim and Gail A Kirby and Carol A Hardy and Renuka P. Dias and Louise J. Tee and Derek H K Lim and Jonathan N. Berg and Fiona Macdonald and Peter Nightingale and Eamonn R Maher},
  booktitle={Clinical Epigenetics},
  year={2014}
}
Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder with variable expressivity and a predisposition to tumorigenesis, results from disordered expression and/or function of imprinted genes at chromosome 11p15.5. There are no generally agreed clinical diagnostic criteria, with molecular studies commonly performed to confirm diagnosis. In particular, methylation status analysis at two 11p15.5 imprinting control centres (IC1 and IC2) detects up to 80% of BWS cases (though low-level… CONTINUE READING