developmental & genetic diseases by dr. ghada ahmed lecturer of pathology benha faculty of...
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الرحيم الرحمن الله بسم
Developmental & Genetic Diseases
By Dr. Ghada Ahmed
Lecturer of pathologyBenha Faculty of Medicine
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Developmental disorders
Definition
Teratogenic factors:Chemicals & drugsIonizing radiationInfection to mother Chromosomal/ genetic abnormalities
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Effect of Teratogenecity
Severe
Less severe
Later on life
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Genetic facts
46, XX46, XY
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Gene mutation
Permanent change in DNA sequence of certain gene
Abnormal gene
New properties
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Gene mutation
Point mutation
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Classification of Genetic diseases
Genetic diseases
Genetic defects
(Mendelian Disorders)
Chromosomal Disorders
Diseases with
Multifactorial
Inheritence
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Genetic defects
Autosomal linked
Dominanat Recessive
Sex-linked
X-linked
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Marfan syndrome
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Marfan syndrome
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Sickle cell anemia
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Hemophilia
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Classification of Genetic diseases
Genetic diseases
Genetic defects
(Mendelian Disorders)
Chromosomal Disorders
Diseases with
Multifactorial
Inheritence
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Chromosomal
aberration
Structural aberrations
Deletion Translocation Inversion
Numerical aberrations
Increased number
Decreased number
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Structural aberration:Deletion
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Structural aberration: Translocation
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Structural aberration: Inversion
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Numerical aberrationDown’s syndrome (Triosomy 21)
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Numerical aberrationTurner syndrome (45,X)
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Numerical aberration Klinefelter syndrome (47,XXY)
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Polygenetic diseases
Multi-factorial diseases
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Thank You