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Section 6 – Cell Reproduction

Section 6 – Cell Reproduction. Part 5: Human Chromosomal Disorders. Part 5: Chromosomal Disorders. Chromosome abnormalities can result in chromosome disorders. Part 5: Chromosomal Disorders. Objectives: Explain chromosome mutations / rearrangements

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Section 6 – Cell Reproduction

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  1. Section 6 – Cell Reproduction Part 5: Human Chromosomal Disorders

  2. Part 5: Chromosomal Disorders Chromosome abnormalities can result in chromosome disorders

  3. Part 5: Chromosomal Disorders Objectives: Explain chromosome mutations / rearrangements Identify karyotypes and their role in chromosome disorders Relate nondisjunction to abnormal chromosome numbers

  4. Part 5: Chromosomal Disorders Chromosomal Disorders Karyotypes arepics/maps of homologous pairs

  5. Part 2: Chromosomal Disorders Chromosomal Disorders Autosomes arepaired; sets 1-22 sex chromosomespaired; set 23.

  6. Part 5: Chromosomal Disorders Chromosomal Disorders Karyotypes can be used todiagnose chromosomedisorders

  7. Part 5: Chromosomal Disorders Chromosome Mutations and Rearrangements Pieces of chromosomes are sometimes rearranged within one chromosome or between non-HC (homologous chromosomes)

  8. Part 5: Chromosomal Disorders Chromosome Mutations and Rearrangements Deletions remove large segments of DNA

  9. Part 5: Chromosomal Disorders Chromosome Mutations and Rearrangements Duplications cause genes to be repeated on the same chromosome

  10. Part 5: Chromosomal Disorders Chromosome Mutations and Rearrangements Inversions flip the order of genes on a single chromosome

  11. Chromosome 9 inversion is one of the most common structural balanced chromosomal variants, with an estimated incidence of about 3.5 percent.[3] It remains unclear, however, if these rearrangements have clinical significance.[3][4] In some cases, it has been associated with infertility, recurrent pregnancy loss, and cancer.

  12. Part 5: Chromosomal Disorders Chromosome Mutations and Rearrangements Translocations move segments from one chromosome to another

  13. Part 5: Chromosomal Disorders Chromosomal Disorders Nondisjunction is the result of cell division in which sister chromatids do not separate Occurs in meiosis, creating gametes with the wrong chromosome number

  14. Part 5: Chromosomal Disorders Chromosomal Disorders

  15. Part 5: Chromosomal Disorders Chromosomal Disorders Monosomy is having only one copy of a chromosome pair

  16. Part 5: Chromosomal Disorders Chromosomal Disorders Monosomy X (Turner Syndrome); only one copy of X chromosome, no Y chromosome

  17. Part 5: Chromosomal Disorders Chromosomal Disorders Trisomy is having three copies of a chromosome pair

  18. Part 5: Chromosomal Disorders Chromosomal Disorders Trisomy 21 (Down Syndrome); three copies of chromosome 21

  19. Part 5: Chromosomal Disorders Chromosomal Disorders Fetal testing provides knowledge of chromosomal status of the fetus through karyotypes

  20. Part 5: Chromosomal Disorders Chromosomal Disorders Amniocentesisdiagnoses chromosomeabnormalities

  21. Part 5: Chromosomal Disorders Chromosomal Disorders Fetal blood testingdiagnoses genetic orchromosomalabnormalities

  22. Part 5: Chromosomal Disorders Read pgs 392-393, 401

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