1. Introduction to Cytogenetics - Tufts Universityocw.tufts.edu/data/20/300847.pdf · 1....
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1. Introduction to Cytogenetics 2. Learning objectives Tufts OpenCourseWare © 2007 Tufts University Introduction to Cytogenetics OCW: Genetics (J. Cowan) Page - 1
Transcript of 1. Introduction to Cytogenetics - Tufts Universityocw.tufts.edu/data/20/300847.pdf · 1....
1. Introduction to Cytogenetics
2. Learning objectives
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3. How to see chromosomes
4. Normal karyotype
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5. Karyotype arrangement
6. Chromosome layout
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7. Diagram
8. Nomenclature
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9. Abbreviations
10. Abbreviations
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11. Monosomy
12. Trisomy/triploidy
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13. Examples 1
14. Typical newborn presentation
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15. Baby G
16. In the lab
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17. During the 48 hours
18. Fluorescence in situ hybridization (FISH)
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19. FISH probes
20. Chromosome 21 FISH
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21. Back to the blood in culture
22. How does trisomy 21 happen?
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23. Frequency of trisomy
24. Typical routine adult presentation
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25. In the lab
26. Mrs F’s karyotype
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27. Translocations
28. Constitutional translocations
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29. Robertsonian translocations
30. Robertsonian translocation
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31. Translocations and meiosis
32. Mr and Mrs F
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33. Karyotype of fetus
34. Unbalanced translocations
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35. Summary 1
36. Summary 2
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37. Summary 3
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