HUMAN GENETICS
AND GENOMICS

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• Chromosomal disorders
• • 1. Trisomy 13
  • 2. Trisomy 18
  • 3. Trisomy 21
  • 4. XXY (Klinefelter)
  • 5. Turner syndrome
  • 6. XYY
  • 7. 47, XXX
  • 8. Velo-cardio-facial/DiGeorge syndrome
  • 9. Prader-Willi syndrome
  • 10. Angelman syndrome
  • 11. Williams syndrome
• Cancer predispositon syndromes
• • 12. Cowden syndrome
  • 13. Li-Fraumeni syndrome
  • 14. Hereditary breast and ovarian cancer
  • 15. Familial adenomatous polyposis
  • 16. Hereditary nonpolyposis colon cancer
  • 17. von Hippel-Lindau syndrome
  • 18. Neurofibromatosis
  • 19. Tuberous sclerosis complex
  • 20. Multiple endocrine neoplasia
  • 21. Retinoblastoma
• Dermatologic disorders
• • 22. Incontinentia Pigmenti
  • 23. Ectodermal dysplasia
  • 24. Albinism
  • 25. Epidermolysis bullosa
• Gastrointestinal disorders
• • 26. Hemochromatosis
  • 27. Wilson disease
• Pulmonary disorders
• • 28. Cystic fibrosis
  • 29. α1-antitrypsin deficiency
• Neurological disorders
• • 30. Huntington disease
  • 31. Holoprosencephaly
  • 32. Hereditary ataxia
  • 33. Fragile X syndrome
  • 34. Rett syndrome
  • 35. Canavan disease
  • 36. Hereditary dystonia
  • 37. Alzheimer disease
  • 38. Autism spectrum disorders
  • 39. Ataxia-telangiectasia
• Neuromuscular disorders
• • 40. Spinal muscular atrophy
  • 41. Duchenne/Becker muscular dystrophy
  • 42. Myotonic dystrophy
  • 43. Familial dysautonomia
  • 44. Hereditary motor and sensory neuropathy
• Hematological disorders
• • 45. Hemoglobinopathies
  • 46. Hereditary angioedema
  • 47. Hemophilias
  • 48. Thrombophilia
  • 49. Hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber syndrome)
• DNA Repair disorders
• • 50. Bloom syndrome
  • 51. Xeroderma pigmentosum
  • 52. Fanconi anemia
• Congenital anomaly
• • 53. Neural tube defect
  • 54. CHARGE syndrome
  • 55. Beckwith-Wiedemann
  • 56. VATER association
  • 57. Noonan syndrome
  • 58. Progeria (premature aging)
  • 59. Craniosynostosis
  • 60. Hirschsprung disease
• Renal/genital disorders
• • 61. Polycystic kidney disease
  • 62. Androgen insensitivity syndrome
  • 63. Y chromosome infertility
• Skeletal/connective tissue
• • 64. Osteogenesis imperfecta
  • 65. Marfan syndrome
  • 66. Ehlers-Danlos syndrome
  • 67. Achondroplasia
• Endocrine disorders
• • 68. Congenital adrenal hyperplasia
  • 69. Diabetes mellitus
• Cardiovascular disorders
• • 70. Cardiomyopathy
  • 71. Holt-Oram syndrome
  • 72. Long QT syndrome
• Inborn errors of metabolism
• • 73. Phenylketonuria (PKU)
  • 74. Maple syrup urine disease
  • 75. Organic acidemia
  • 76. Alkaptonuria
  • 77. Adrenoleukodystrophy/peroxisomal disorders (ALD)
  • 78. Fatty acid oxidation disorders (MCAD)
  • 79. Fabry disease
  • 80. Gaucher disease
  • 81. Niemann-Pick disease
  • 82. Tay-Sachs disease
  • 83. Menkes disease
  • 84. Smith-Lemli-Opitz syndrome
  • 85. Glycogen storage disease
  • 86. Mucopolysaccharidosis
  • 87. Urea cycle disorders
  • 88. Familial hypercholesterolemia
  • 89. Homocystinuria
  • 90. Lesch-Nyhan syndrome
  • 91. MELAS
  • 92. MERRF
  • 93. Leber hereditary optic neuropathy
  • 94. Acute intermittent porphyria
  • 95. Tangier disease
  • 96. Galactosemia
  • 97. Tyrosinemia
• Sensory disorders
• • 98. Hereditary deafness
  • 99. Red-green color Color blindness
  • 100. Retinitis pigmentosum