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الرحيم الرحمن الله بسم
Developmental & Genetic Diseases
By Dr. Ghada Ahmed
Lecturer of pathologyBenha Faculty of Medicine
Developmental disorders
Definition
Teratogenic factors:Chemicals & drugsIonizing radiationInfection to mother Chromosomal/ genetic abnormalities
Effect of Teratogenecity
Severe
Less severe
Later on life
Genetic facts
46, XX46, XY
Gene mutation
Permanent change in DNA sequence of certain gene
Abnormal gene
New properties
Gene mutation
Point mutation
Classification of Genetic diseases
Genetic diseases
Genetic defects
(Mendelian Disorders)
Chromosomal Disorders
Diseases with
Multifactorial
Inheritence
Genetic defects
Autosomal linked
Dominanat Recessive
Sex-linked
X-linked
Marfan syndrome
Marfan syndrome
Sickle cell anemia
Hemophilia
Classification of Genetic diseases
Genetic diseases
Genetic defects
(Mendelian Disorders)
Chromosomal Disorders
Diseases with
Multifactorial
Inheritence
Chromosomal
aberration
Structural aberrations
Deletion Translocation Inversion
Numerical aberrations
Increased number
Decreased number
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