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37 min
1. Copy number variation- Prof. Steve Scherer
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17 min
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32 min
3. CNVs in human genomes- Prof. Chris Ponting
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32 min
4. Gene copy number variation in human and primate evolution- Prof. James Sikela
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64 min
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44 min
6. CNVs and clinical diagnosis- Dr. Brynn Levy
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43 min
7. Quantitative CNV testing in molecular diagnostics- Prof. Dimitri J. Stavropoulos
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33 min
8. Mendelian CNV mutations- Prof. Joris Vermeesch
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40 min
9. Copy number variation in neuropsychiatric disorders- Dr. Christian Marshall
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41 min
10. Copy number variation in association studies of human disease- Dr. Steven McCarroll
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21 min
11. Ethical considerations in dealing with CNV information- Dr. Holly Tabor
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38 min
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31 min
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31 min
- Archived Lectures *These may not cover the latest advances in the field
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26 min
15. Population genetics of structural variation- Dr. Don Conrad
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47 min
16. Databases for CNV in control and disease populations- Dr. Lars Feuk
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45 min
17. Copy number variation in mental retardation- Dr. Joris Veltman
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35 min
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34 min
19. Structural variants and susceptibility to common human disorders- Prof. Xavier Estivill
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40 min
20. Indels, CNVs and the spectrum of human genome variation- Prof. Samuel Levy
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36 min
21. Genome structure and expression- Prof. Alexandre Reymond
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39 min
22. Quantitative CNV testing in molecular diagnostics- Prof. Martin Somerville
Printable Handouts
Navigable Slide Index
- Introduction
- Overview
- Williams-Beuren Syndrome (WBS)
- Clinical symptoms of WBS
- Characteristic facial features
- Unique cognitive and behavioural profile
- Spatial deficits in Williams-Beuren Syndrome
- What letter do you see?
- The forest or the trees
- Genetic basis of WBS
- Haploinsufficiency of elastin causes SVAS
- Genomic organization of 7q11.23
- The common WBS deletion
- Evolution of WBS segmental duplications
- Deletion mechanism
- Direct and inverted LCRs at 7q11.23
- Fishing for inversions
- Inversions of the WBS region
- Inversion does not cause clinical symptoms
- Inversion polymorphism as a genetic risk factor
- Genetic risk factor for genomic disease
- Familial recurrence of WBS
- Risk assessment in WBSinv-1 carriers
- Duplication of the WBS region (1)
- First duplication of the WBS region
- FISH detection of WBS duplication
- WBS duplication is reciprocal of the WBS deletion
- Clinical features associated with WBS duplication
- WBS duplication and expressive language
- Severe expressive language delay
- Duplication of the WBS region (2)
- Frequency of 7q11.23 duplication
- Common features of Dup(7)(q11.23q11.23)
- Sporadic features of Dup(7)(q11.23q11.23)
- Deletion vs. duplication of 7q11.24
- Molecular basis of WBS (1)
- NCF1 copy number and hypertension risk in WBS
- Molecular basis of WBS (2)
- Small deletions of the WBS region
- Dissecting genotype-phenotype relationships
- Summary
- 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
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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 26, 2024, from https://doi.org/10.69645/IXNF9401.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Lucy Osborne has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Williams-Beuren syndrome locus: a model of CNV affecting gene dosage and phenotypes
Published on August 30, 2009
31 min
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