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1. Introduction
2. Layout presentation
3. Mental retardation (MR): definition
4. Mental retardation: prevalence
5. Mental retardation: causes
6. Chromosomal alterations in mental retardation
7. Molecular karyotyping
8. Step 1. making a microarray
9. Step 2. the microarray procedure
10. Step 3. the result
11. Copy number variation on chromosome 9
12. Chromosome-studies using Affymetrix SNP arrays
13. Validation of 500k SNP array
14. Chromosome 2 profile plus zoom-in deletion
15. Latest generation arrays detects smaller CNVs
16. Developing genomic microarrays
17. Karyotypins vs. Affymetrix
18. Application and validation of clinical use
19. Genomic profile obtained by 100 kb BAC array
20. De novo or inherited?
21. Validation of de novo CNV on chromosome 1
22. Additional de novo CNVs identified in patients
23. Inherited copy number variants
24. The result after testing 100 MR patients
25. Current diagnostic application of CNVs in MR
26. Diagnostic genome profiling in MR
27. Rare de novo CNVs are frequent in MR
28. Apparently benign CNVs are common
29. MR-associated CNVs are larger than benign CNVs
30. Diagnostic genome profiling in MR - conclusions
31. Identification of recurrent de novo CNVs
32. Targeted MLPA identifies 2 additional deletions
33. Deletion located in a region showing inversions
34. Deletion occurs on inverted allele H2
35. Patients show clinical overlap: new MR syndrome?
36. Delineating the 17q.21.31 deletion phenotype
37. Microarray analysis identifies novel recurrent CNVs
38. Nijmegen overview of diagnostic applications in MR
39. General Conclusions
40. 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

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics
• Neuroscience

Therapeutic Areas:

• Neurology

Talk Citation

Publication History

• Published on August 30, 2009
• Archived on February 25, 2021

Financial Disclosures

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