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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
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Page 1: 1. Introduction to Cytogenetics - Tufts Universityocw.tufts.edu/data/20/300847.pdf · 1. Introduction to Cytogenetics 2. Learning objectives ... Introduction to Cytogenetics OCW:

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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