بسم الله الرحمن الرحيم
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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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بسم الله الرحمن الرحيم

Developmental & Genetic Diseases

By

Dr. Ghada Ahmed

Lecturer of pathology

Benha Faculty of Medicine


Developmental disorders

  • Definition

  • Teratogenic factors:

    Chemicals & drugs

    Ionizing radiation

    Infection to mother

    Chromosomal/ genetic abnormalities


Effect of Teratogenecity

  • Severe

  • Less severe

  • Later on life


Genetic facts

46, XX

46, XY


Gene mutation

Permanentchange in DNA sequence of certain gene

Abnormal gene

New properties


Gene mutation

  • Point mutation


Classification of Genetic diseases


Marfan syndrome


Marfan syndrome


Sickle cell anemia


Hemophilia


Classification of Genetic diseases


Structural aberration:Deletion


Structural aberration: Translocation


Structural aberration: Inversion


Numerical aberrationDown’s syndrome (Triosomy 21)


Numerical aberrationTurner syndrome (45,X)


Numerical aberration Klinefelter syndrome (47,XXY)


  • Polygenetic diseases

  • Multi-factorial diseases


Thank You


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