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Chromosome Disorders

Learn about chromosome disorders like Down syndrome and Turner syndrome, genetic mutations, and classifications of genetic disorders. Explore single-gene disorders, chromosome disorders, and multifactorial disorders. Discover types of mutations, such as unbalanced rearrangements and balanced rearrangements. Understand abnormalities of chromosome structure and number, including aneuploidy and polyploidy. Dive into the genetic basis of inherited conditions with this informative guide.

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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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