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- View the Talks
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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
- Layout presentation
- Mental retardation (MR): definition
- Mental retardation: prevalence
- Mental retardation: causes
- Chromosomal alterations in mental retardation
- Molecular karyotyping
- Step 1. making a microarray
- Step 2. the microarray procedure
- Step 3. the result
- Copy number variation on chromosome 9
- Chromosome-studies using Affymetrix SNP arrays
- Validation of 500k SNP array
- Chromosome 2 profile plus zoom-in deletion
- Latest generation arrays detects smaller CNVs
- Developing genomic microarrays
- Karyotypins vs. Affymetrix
- Application and validation of clinical use
- Genomic profile obtained by 100 kb BAC array
- De novo or inherited?
- Validation of de novo CNV on chromosome 1
- Additional de novo CNVs identified in patients
- Inherited copy number variants
- The result after testing 100 MR patients
- Current diagnostic application of CNVs in MR
- Diagnostic genome profiling in MR
- Rare de novo CNVs are frequent in MR
- Apparently benign CNVs are common
- MR-associated CNVs are larger than benign CNVs
- Diagnostic genome profiling in MR - conclusions
- Identification of recurrent de novo CNVs
- Targeted MLPA identifies 2 additional deletions
- Deletion located in a region showing inversions
- Deletion occurs on inverted allele H2
- Patients show clinical overlap: new MR syndrome?
- Delineating the 17q.21.31 deletion phenotype
- Microarray analysis identifies novel recurrent CNVs
- Nijmegen overview of diagnostic applications in MR
- General Conclusions
- Acknowledgements
Topics Covered
- Genetics of mental retardation
- Microarray-based detection of copy number variation (CNV)
- CNVs in mental retardation, a frequent cause
- Molecular karyotyping, improving diagnostic yield
Links
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Talk Citation
Veltman, J. (2009, August 30). Copy number variation in mental retardation [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 25, 2024, from https://hstalks.com/bs/1403/.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Joris Veltman has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
