Printable Handouts

PDF

Navigable Slide Index

1. Introduction
2. Overview
3. Williams-Beuren Syndrome (WBS)
4. Clinical symptoms of WBS
5. Characteristic facial features
6. Unique cognitive and behavioural profile
7. Spatial deficits in Williams-Beuren Syndrome
8. What letter do you see?
9. The forest or the trees
10. Genetic basis of WBS
11. Haploinsufficiency of elastin causes SVAS
12. Genomic organization of 7q11.23
13. The common WBS deletion
14. Evolution of WBS segmental duplications
15. Deletion mechanism
16. Direct and inverted LCRs at 7q11.23
17. Fishing for inversions
18. Inversions of the WBS region
19. Inversion does not cause clinical symptoms
20. Inversion polymorphism as a genetic risk factor
21. Genetic risk factor for genomic disease
22. Familial recurrence of WBS
23. Risk assessment in WBSinv-1 carriers
24. Duplication of the WBS region (1)
25. First duplication of the WBS region
26. FISH detection of WBS duplication
27. WBS duplication is reciprocal of the WBS deletion
28. Clinical features associated with WBS duplication
29. WBS duplication and expressive language
30. Severe expressive language delay
31. Duplication of the WBS region (2)
32. Frequency of 7q11.23 duplication
33. Common features of Dup(7)(q11.23q11.23)
34. Sporadic features of Dup(7)(q11.23q11.23)
35. Deletion vs. duplication of 7q11.24
36. Molecular basis of WBS (1)
37. NCF1 copy number and hypertension risk in WBS
38. Molecular basis of WBS (2)
39. Small deletions of the WBS region
40. Dissecting genotype-phenotype relationships
41. Summary
42. Acknowledgements

Topics Covered

• Clinical overview of WBS
• Genetic basis of WBS, including the role of elastin -Mechanisms of rearrangement at the WBS locus
• Occurrence and implications of inversions of the WBS region
• Duplication of the WBS region
• Comparison of gain and loss at the WBS locus
• Genotype-phenotype relationships in WBS

Links

Series:

• Copy Number Variation

Categories:

• Clinical Practice
• Genetics & Epigenetics
• Neuroscience

Therapeutic Areas:

• Cardiovascular & Metabolic
• Neurology

Talk Citation

Osborne, L. (2009, August 30). Williams-Beuren syndrome locus: a model of CNV affecting gene dosage and phenotypes [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 22, 2024, from https://doi.org/10.69645/IXNF9401.
Export Citation (RIS)

Publication History

• Published on August 30, 2009

Financial Disclosures

• Dr. Lucy Osborne has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.