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Chromosome Disorders

Chromosome Disorders. Classification of genetic disorders. Single-gene disorders (2%) Chromosome disorders ( < 1%) Multifactorial disorders (60%). Types of Mutation. Chromosome disorders. accounting for about half of all spontaneous first-trimester abortions

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Chromosome Disorders

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  1. Chromosome Disorders

  2. Classification of genetic disorders • Single-gene disorders (2%) • Chromosome disorders (<1%) • Multifactorial disorders (60%)

  3. Types of Mutation

  4. Chromosome disorders • accounting for about half of all spontaneous first-trimester abortions • affecting about 1% liveborn infants • Chromosome Mutation • Genome Mutation

  5. Chromosome Mutationabnormalities of chromosome structure • Unbalanced rearrangements (sick) deletions, duplications • Balanced rearrangements (healthy) inversions, translocations

  6. Unbalanced rearrangements

  7. Unbalanced rearrangements

  8. Unbalanced rearrangements

  9. Balanced rearrangements

  10. Balanced rearrangements

  11. Balanced rearrangements

  12. Balanced rearrangements

  13. Genome Mutationabnormalities of chromosome number due to nondisjunction(chance occurrence) euploid – an exact multiple of the haploid chromosome number • Aneuploidy– trisomy, monosomy • Polyploidy – triploid (3n), tetraploid (4n)

  14. Down syndrome(ultrasound examination)

  15. Down syndrome

  16. Turner syndrome

  17. Turner syndrome

  18. Turner syndrome

  19. Klinefelter syndrome

  20. Klinefelter syndrome

  21. Klinefelter syndrome

  22. Literature Biology, eighth edition, Campbell, Reece Unit three: Genetics Chapter 15: The Chromosomal Basis of Inheritance Concept 15.4: Alterations of chromosome number or structure cause some genetic disorders Pages 297 – 300

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