• Single Gene Mutation
  • 1 Substitution (Eg Sickle Cell Anemia)
  • 2 Insertion
  • 3 Deletion
• Polygenic
• Chromosomal

  • 1 Structural

    1. Deletion
    2. Duplication
    3. Insertion
    4. Inversion
    5. Translocation – Phildelphia Chromosome 9:22
    6. Non Disjunction
    7.  Ring Chromosome

  • 2 Numerical

    • Aneuploidy
      • 1 Trisomy (2n+1)
        • Autosomal
          • Trisomy 21
            • Down syndrome (47XX+21)
          • Trisomy 13
            • Patau Syndrome (47XY +13)
          • Trisomy 18
            • Edward Syndrome ( 47 XY +18)
        • Sexual
          • Klinfelter Syndrome (XXY)
      • 2 Monosomy (2n -1)
        • Turners Syndrome (45 XO)
    • Polyploidy
      • 69 – Triploid, 92 – Tetraploid
      • Usually, these babies cause spontaneous abortion

  • 3 Mixoploidy

    • Mosaicism

    • Chimerism

• Autosomal
  • Dominant
    • A- Achondroplasia
    • D- Dystrophia Myotonia
    • O- Osteogenesis Imperfecta
    • M- Marfans Syndrome
    • I- Intermittent Porphyria
    • N- Neurofibromatosis Type 1
    • A – Autosomal Dominant Polycystic Kidney Disease
    • N- Neurofibromatosis Type – 2
    • T- Tuberous Sclerosis
    • H- Heridarty Spherocytosis, Huntington Disease
    • V- Von Wrenklinhausen Disease
    • F- Familial Hypercholestremia, Familial Polyposis Coli
  • Recessive
    • A- Abetaprotenemia, Alkaproteinemia, Alpha 1 antitrypsin Deficiency
    • C- Crigler Najar Syndrome, Cystic Fibrosis, Cystinuria
    • D- Dubin Johnson Syndrome
    • F- Fanconis anemia, Freidrich’s Ataxia
    • G- Gauchers Disease, Glycogen Storage Disease
    • H- Hemochromatosis, Homocystinuria
    • K – Kartangener Syndrome
    • M- Muscular Atrophy
    • P- Phenylketonuria
    • S- Sickle Cell Disease
    • T- Thalassemia
    • V- Von Willebrand Disease Type 3 (1 and 2 Dominant)
    • W- Wilsons Disease
• Sexual (X linked )
  • Dominant
    • F- Familial Hypophosphatemic rickets ( Vitamin D resistant Rickets), Fragile X syndrome
    • A- Alport Syndrome
    • I- Incontintentia Pigmenti
    • R- Rett’s Syndrome
  • Recessive
    • Hemophilia A and B, G6PD deficiency
    • Duchene and Behets Muscular dystrophy
    • Color Blindness and Night Blindness
    • Diabetes Insipidus

→ CLICK HERE