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1. Introduction
2. The array CGH revolution
3. Which imbalances are causal for the phenotype
4. Identifying recurrent imbalances and phenotypes
5. The larger the size, the more likely causal (1)
6. The larger the size, the more likely causal (2)
7. Population embedded CNVs are benign
8. GV Database: map all "benign" variation
9. Inherited imbalances - benign; de novo - causal
10. Mendelian CNVs: a paradigm shift in genetics
11. Mendelian CNVs: new wine in old bottles
12. Some conventions
13. More conventions
14. Autosomal recessive CNVs (1)
15. An example: Cohen syndrome
16. Spastic ataxia of Charlevoix-Saguenay
17. Inherited mutation, de novo deletion
18. Autosomal recessive CNVs (2)
19. Autosomal dominant CNVs (1)
20. Autosomal dominant CNVs (2)
21. An amplification linked to inherited microtia (1)
22. An amplification linked to inherited microtia (2)
23. Analysis of the disease
24. X-linked CNVs
25. MECP2 duplication
26. ATR-X syndrome
27. Imprinted CNVs (1)
28. Prader-Willi/Angelman region
29. Imprinted CNVs (2)
30. Variable expressivity and incomplete penetrance
31. 16p13.1 deletions and duplications
32. TAR and 1q21.1 syndromes
33. Conclusion
34. Acknowledgments

Topics Covered

• Copy number variation has now been shown to be a major cause of human genetic variation
• It has been implicated as the main cause of mental retardation disorders
• The boundary between benign and malignant copy number variations is blurring
• This is because certain CNVs can be benign but cause genetic disorders dependent on copy number state, sex and genetic background
• We coin them "Mendelian CNVs"
• An overview of autosomal recessive, dominant, X-linked and imprinted CNVs
• Diagnostic and clinical consequences

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics

Talk Citation

Publication History

• Published on August 30, 2009
• Archived on May 28, 2025

Financial Disclosures

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