Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5)
✍ Scribed by Norman, Andrew M ;Read, Andrew P ;Clayton-Smith, Jill ;Andrews, Tony ;Donnai, Dian
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 258 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract Beckwith–Wiedemann 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
Genetic mosaicism" describes the presence of two or more populations of cells within a single individual that differ in their genomic constitution. Although the occurrence of asymmetric overgrowth in Wiedemann-Beckwith syndrome (WBS) suggests that mosaicism has some role in the WBS phenotype, no dir
We have studied a family in which four members of the same generation were affected with Wiedemann-Beckwith syndrome (WBS). Trisomy llp15 was demonstrated using molecular probes in interphase nuclei of formalin-fixed paraffin-embedded placenta from a stillborn fetus and in peripheral blood lymphocyt