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1. Introduction
2. Genetic imbalance
3. Chromosomal imbalance (1)
4. Normal chromosome pattern
5. Chromosomal imbalance: triploidy and tetraploidy
6. Chromosomal imbalance (2)
7. Survivable chromosomal imbalance (1)
8. "Viable" chromosome imbalance
9. Clinical implications (1)
10. Clinical implications (2)
11. Chromosomal references and databases
12. Chromosome analysis - G-banding
13. Limits of conventional cytogenetic analysis
14. Banding resolution impacts diagnostic ability (1)
15. Banding resolution impacts diagnostic ability (2)
16. Molecular cytogenetics
17. Fluorescence in situ hybridization
18. Clinical phenotype guides the choice of FISH
19. Clinical phenotype guides the choice of FISH (2)
20. Determining the origin of a marker chromosome (1)
21. Trisomy rescue (1)
22. Trisomy rescue (2)
23. Trisomy rescue (3)
24. Determining the origin of a marker chromosome (2)
25. Determining the origin of a marker chromosome (3)
26. Determining the origin of a marker chromosome (4)
27. Detection of partial aneuploidies using FISH
28. Molecular cytogenetic techniques
29. Microarray analysis in clinical genetics
30. Probe spacing and resolution
31. Probe spacing and resolution: 415Kb deletion
32. Probe spacing and resolution: 40Kb deletion
33. Probe spacing and resolution: a smaller probe
34. Probe spacing and resolution: deletion not covered
35. SOMA
36. SNP intensity and chromosomal copy number
37. SOMA in clinical genetics
38. SOMA in clinical molecular cytogenetics
39. Category 1 and 2 cases
40. An easy diagnosis using SOMA
41. Category 3 cases - partial aneuploidy
42. Detecting marker chromosome using SOMA
43. Ring chromosome
44. Gene composition of ring 4 chromosome
45. Example of category 2 case (1)
46. Example of category 2 case (2)
47. Complex chromosome 8-13 imbalance (1)
48. Complex chromosome 8-13 imbalance (2)
49. Complex chromosome 8-13 imbalance (3)
50. Complex chromosome 8-13 imbalance (4)
51. Complex chromosome 8-13 imbalance (5)
52. Proposed sequence of events
53. Patient clinical details- severe hypospadias
54. Patient's original karyotype
55. Diagnosis using conventional analysis
56. Diagnosis using FISH analysis (1)
57. Diagnosis using FISH analysis (2)
58. Duplication of 9p24.1-p13.2
59. Gene composition of duplicated region
60. Gene composition of deleted region (1)
61. Category 4 cases
62. Category 4 case example (1)
63. Category 4 case example (2)
64. Gene composition of deleted region (2)
65. FISH using DiGeorge probe
66. DiGeorge deletion
67. Smith Magenis and Miller Dieker syndromes
68. Category 5 cases
69. Category 5 case example
70. Molecular cytogenetic findings (1)
71. Molecular cytogenetic findings (2)
72. Molecular cytogenetic findings (3)
73. FISH confirmation of a deletion
74. From genome to gene
75. Neurofibromatosis
76. Neurofibromatosis - MLPA analysis
77. Neurofibromatosis - microarray analysis
78. Duchenne muscular dystrophy
79. Various deletions within the dystrophin gene
80. Rubinstein-Taybi syndrome (1)
81. Rubinstein-Taybi syndrome (2)
82. Rubinstein-Taybi syndrome (3)
83. Origins of uniparental disomy- trisomy rescue
84. Isodisomy on SNP microarray
85. Conclusion
86. SOMA in clinical cytogenetics
87. Benefits of microarray analysis in clinical genetics
88. Acknowledgements

Topics Covered

• Genetic and chromosomal imbalance
• Survivable and "viable" chromosomal imbalance
• Clinical implications of chromosome abnormalities
• Chromosome analysis
• Diagnostic limits of conventional cytogenetic analysis
• How does banding resolution impact diagnostic ability?
• Molecular cytogenetics
• Fluorescence in situ hybridization (FISH)
• The clinical phenotype guides the choice of FISH test
• How do we determine the origin of marker chromosomes?
• Trisomy rescue
• Microarray analysis in clinical genetics
• Probe spacing and resolution
• Single nucleotide polymorphism oligonucleotide microarray analysis (SOMA) in clinical cytogenetics
• Partial aneuploidy
• Ring chromosome
• Gene composition of duplicated region
• Subtelomeric imbalances
• Gene composition of delete region
• FISH using Di George probe
• Neurofibromatosis
• Duchenne muscular dystrophy
• Rubinstein-Taybi syndrome
• Uniparental disomy
• Benefits of microarray analysis in clinical genetics

Links

Series:

• Copy Number Variation

Categories:

• Genetics & Epigenetics
• Methods

Talk Citation

Publication History

• Published on August 31, 2009

Financial Disclosures

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