Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.
J Med Genet
; 48(3): 212-6, 2011 Mar.
Article
in En
| MEDLINE
| ID: mdl-21097775
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 (â¼ 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.
Full text:
1
Database:
MEDLINE
Main subject:
Beckwith-Wiedemann Syndrome
/
Genetic Predisposition to Disease
/
Uniparental Disomy
/
Diploidy
/
Neoplasms
Type of study:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
J Med Genet
Year:
2011
Type:
Article
Affiliation country:
Spain