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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6841923

بسم الله الرحمن الرحيم

Developmental & Genetic Diseases

By

Dr. Ghada Ahmed

Lecturer of pathology

Benha Faculty of Medicine


Developmental disorders

Developmental disorders

  • Definition

  • Teratogenic factors:

    Chemicals & drugs

    Ionizing radiation

    Infection to mother

    Chromosomal/ genetic abnormalities


Effect of teratogenecity

Effect of Teratogenecity

  • Severe

  • Less severe

  • Later on life


Genetic facts

Genetic facts

46, XX

46, XY


Gene mutation

Gene mutation

Permanentchange in DNA sequence of certain gene

Abnormal gene

New properties


Gene mutation1

Gene mutation

  • Point mutation


Classification of genetic diseases

Classification of Genetic diseases


Marfan syndrome

Marfan syndrome


Marfan syndrome1

Marfan syndrome


Sickle cell anemia

Sickle cell anemia


Hemophilia

Hemophilia


Classification of genetic diseases1

Classification of Genetic diseases


Structural aberration deletion

Structural aberration:Deletion


Structural aberration translocation

Structural aberration: Translocation


Structural aberration inversion

Structural aberration: Inversion


Numerical aberration down s syndrome triosomy 21

Numerical aberrationDown’s syndrome (Triosomy 21)


Numerical aberration turner syndrome 45 x

Numerical aberrationTurner syndrome (45,X)


Numerical aberration klinefelter syndrome 47 xxy

Numerical aberration Klinefelter syndrome (47,XXY)


6841923

  • Polygenetic diseases

  • Multi-factorial diseases


Thank you

Thank You


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