RT Journal Article
SR Electronic
T1 Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 212
OP 216
DO 10.1136/jmg.2010.081919
VO 48
IS 3
A1 Romanelli, Valeria
A1 Nevado, Julián
A1 Fraga, Mario
A1 Trujillo, Alex Martín
A1 Mori, Maria Ángeles
A1 Fernández, Luis
A1 de Nanclares, Guiomar Pérez
A1 Martínez-Glez, Víctor
A1 Pita, Guillermo
A1 Meneses, Heloisa
A1 Gracia, Ricardo
A1 García-Miñaur, Sixto
A1 de Miguel, Purificación García
A1 Lecumberri, Beatriz
A1 Rodríguez, José Ignacio
A1 Neira, Anna González
A1 Monk, David
A1 Lapunzina, Pablo
YR 2011
UL http://jmg.bmj.com/content/48/3/212.abstract
AB 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-wide paternal uniparental disomy (UPD). The observations indicate that the genome-wide UPD results from diploidisation, and have important implications for genetic counselling and tumour surveillance for the growing number of UPD associated imprinting disorders.