title: Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.
abstract: 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.
authors.affiliation: INGEMM (Instituto de Genética Médica y Molecular), IdiPAZ Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain.
authors.forename: Valeria
authors.initials: V
authors.lastname: Romanelli
authors.forename: Julián
authors.initials: J
authors.lastname: Nevado
authors.forename: Mario
authors.initials: M
authors.lastname: Fraga
authors.forename: Alex Martín
authors.initials: AM
authors.lastname: Trujillo
authors.forename: Maria Ángeles
authors.initials: MÁ
authors.lastname: Mori
authors.forename: Luis
authors.initials: L
authors.lastname: Fernández
authors.forename: Guiomar
authors.initials: G
authors.lastname: Pérez de Nanclares
authors.forename: Víctor
authors.initials: V
authors.lastname: Martínez-Glez
authors.forename: Guillermo
authors.initials: G
authors.lastname: Pita
authors.forename: Heloisa
authors.initials: H
authors.lastname: Meneses
authors.forename: Ricardo
authors.initials: R
authors.lastname: Gracia
authors.forename: Sixto
authors.initials: S
authors.lastname: García-Miñaur
authors.forename: Purificación
authors.initials: P
authors.lastname: García de Miguel
authors.forename: Beatriz
authors.initials: B
authors.lastname: Lecumberri
authors.forename: José Ignacio
authors.initials: JI
authors.lastname: Rodríguez
authors.forename: Anna
authors.initials: A
authors.lastname: González Neira
authors.forename: David
authors.initials: D
authors.lastname: Monk
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
mesh_terms: D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D004171:Diploidy; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D010641:Phenotype; D024182:Uniparental Disomy / Q000235:genetics*