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Romanelli V.,Hospital Universitario La Paz | Romanelli V.,U753 Research Center Biomedica En Red Of Enfermedades Raras | Nevado J.,Hospital Universitario La Paz | Nevado J.,U753 Research Center Biomedica En Red Of Enfermedades Raras | And 24 more authors.
Journal of Medical Genetics | Year: 2011

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.

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