Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.

@article{Romanelli2011ConstitutionalMG,
  title={Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.},
  author={Valeria Romanelli and Juli{\'a}n B. Nevado and Mario Granda Fraga and Alex Mart{\'i}n Trujillo and Mar{\'i}a {\'A}ngeles Mori and Luis Alfredo Rosario Fern{\'a}ndez and Guiomar Perez de Nanclares and V Martinez-Glez and Guillermo Pita and Heloisa N M Meneses and Ricardo Grac{\'i}a and Sixto Garc{\'i}a-Mi{\~n}a{\'u}r and Purificaci{\'o}n Garc{\'i}a de Miguel and Beatriz Lecumberri and Jos{\'e} I. Rodriguez and Anna Gonz{\'a}lez Neira and David S. Monk and P Lapunzina},
  journal={Journal of medical genetics},
  year={2011},
  volume={48 3},
  pages={212-6}
}
Molecular studies in a patient with Beckwith-Wiedemann syndrome phenotype who developed two different tumours revealed an unexpected observation of almost complete loss of heterozygosity of all chromosomes. It is shown, by means of numerous molecular methods, that the absence of maternal contribution in somatic cells is due to high-degree (∼ 85%) genome… CONTINUE READING