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

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

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 contributio...

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Hlavní autoři: Valeria Romanelli, Julián Nevado, Mario F. Fraga, Alejandro Martin Trujillo, M. A. Mori, Luis Carlos Sainz Fernandez, Guiomar Pérez de Nanclares, Víctor Martínez‐Glez, Guillermo Pita, H. Meneses, R Gracia, Sixto García‐Miñaúr, Purificación García de Miguel, Beatriz Lecumberri, José Ignacio Rodrı́guez, Anna González‐Neira, David Monk, Pablo Lapunzina
Médium: Artigo
Jazyk:angličtina
Vydáno: 2010
On-line přístup:https://doi.org/10.1136/jmg.2010.081919
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https://doi.org/10.1136/jmg.2010.081919

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