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.
- Beckwith-Wiedemann syndrome
- paternal uniparental disomy
- clinical genetics
- molecular genetics
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Funding Supported by Grant from the FIBHULP to Julian Nevado and by Grant from the FIS 08/1360 to Valeria Romanelli and Pablo Lapunzina.
Competing interests None.
Patient consent Obtained.
Ethics approval This study was conducted with the approval of the Institutional Research Ethics Board of Hospital Universitario La Paz (#CEIC-HULP-PI-446).
Provenance and peer review Not commissioned; externally peer reviewed.