We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.
- Authors
Russo, S; Finelli, P; Recalcati, M P; Ferraiuolo, S; Cogliati, F; Dalla Bernardina, B; Tibiletti, M G; Agosti, M; Sala, M; Bonati, M T; Larizza, L
- Abstract
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with increased risk of paediatric tumours. The aetiology involves epigenetic and genetic alterations affecting the 11p15 region, methylation of the differentially methylated DMR2 region being the most common defect, while less frequent aetiologies include mosaic paternal 11p uniparental disomy (11patUPD), maternally inherited mutations of the CDKN1C gene, and hypermethylation of DMR1. A few patients have cytogenetic abnormalities involving 11p15.5.
- Publication
Journal of medical genetics, 2006, Vol 43, Issue 8, pe39
- ISSN
1468-6244
- Publication type
Commentary
- DOI
10.1136/jmg.2005.038398