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Chapter 12: Chromosomal Abnormalities

Chapter 12: Chromosomal Abnormalities. Figure 12Bc. Figure 12Bda. NONDISJUNCTION CHANGES CHROMOSOME NUMBERS. Figure 12.10a. NONDISJUNCTION CHANGES CHROMOSOME NUMBERS. Figure 12.10b. Figure 12Bdb. DOWN SYNDROME & Gart Gene. Figure 12.11. Figure 12.11b. Figure 12Ba. Figure 12Bb.

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Chapter 12: Chromosomal Abnormalities

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  1. Chapter 12: Chromosomal Abnormalities

  2. Figure 12Bc

  3. Figure 12Bda

  4. NONDISJUNCTION CHANGES CHROMOSOME NUMBERS Figure 12.10a

  5. NONDISJUNCTION CHANGES CHROMOSOME NUMBERS Figure 12.10b

  6. Figure 12Bdb

  7. DOWN SYNDROME & Gart Gene Figure 12.11

  8. Figure 12.11b

  9. Figure 12Ba

  10. Figure 12Bb

  11. Figure 12.12a

  12. Figure 12.12b

  13. Trisomy 18 - Edward's Syndrome • Failure to grow and gain weight at the expected rate and severe feeding difficulties, diminished muscle tone and episodes in which there is temporary cessation of spontaneous breathing • Developmental delays and intellectual disability • A prominent back portion of the head, low-set, malformed ears, an abnormally small jaw, a small mouth an upturned nose, narrow eyelid folds, widely spaced eyes, and drooping of the upper eyelids

  14. TRISOMY 13 (also known as Patau syndrome) - Of all babies born with the extra copy of chromosome 13 in all the cells of their body, around 50% die in the first month, and the rest within the first year Median survival age for children with Patau syndrome is 2.5 days

  15. CHROMOSOME MUTATIONS

  16. Figure 12.13

  17. Figure 12.13a

  18. Figure 12.13b

  19. Figure 12.13c

  20. Figure 12.13d

  21. Figure 12.14

  22. DELETION MUTATION (WILLIAMS SYNDROME)

  23. Williams Syndrome –Deletion of Chromosome 7

  24. Figure 12.16

  25. Figure 12.16b

  26. CRI DU CHATDeletion of Chromosome #5

  27. FRAGILE X - duplication mutation

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