## Abstract BeckwithโWiedemann syndrome (BWS) is an overgrowth syndrome characterized by macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk. BWS can be associated with genetic and/or epigenetic alterations that modify imprinted gene expression on chromosome 11p15.5. So
Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies
โ Scribed by Venditti, Charles P. ;Hunt, Piper ;Donnenfeld, Alan ;Zackai, Elaine ;Spinner, Nancy B.
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 180 KB
- Volume
- 124A
- Category
- Article
- ISSN
- 0148-7299
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