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بسم الله الرحمن الرحيم

بسم الله الرحمن الرحيم. Developmental & Genetic Diseases By Dr. Ghada Ahmed Lecturer of pathology Benha Faculty of Medicine. Developmental disorders. Definition Teratogenic factors: Ch emicals & drugs I onizing radiation I nfection to mother Ch romosomal/ genetic abnormalities.

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بسم الله الرحمن الرحيم

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  1. بسم الله الرحمن الرحيم Developmental & Genetic Diseases By Dr. Ghada Ahmed Lecturer of pathology Benha Faculty of Medicine

  2. Developmental disorders • Definition • Teratogenic factors: Chemicals & drugs Ionizing radiation Infection to mother Chromosomal/ genetic abnormalities

  3. Effect of Teratogenecity • Severe • Less severe • Later on life

  4. Genetic facts 46, XX 46, XY

  5. Gene mutation Permanentchange in DNA sequence of certain gene Abnormal gene New properties

  6. Gene mutation • Point mutation

  7. Classification of Genetic diseases

  8. Marfan syndrome

  9. Marfan syndrome

  10. Sickle cell anemia

  11. Hemophilia

  12. Classification of Genetic diseases

  13. Structural aberration:Deletion

  14. Structural aberration: Translocation

  15. Structural aberration: Inversion

  16. Numerical aberrationDown’s syndrome (Triosomy 21)

  17. Numerical aberrationTurner syndrome (45,X)

  18. Numerical aberration Klinefelter syndrome (47,XXY)

  19. Polygenetic diseases • Multi-factorial diseases

  20. Thank You

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