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