1. Basic Human Pathology Lecture #3 Developmental and Genetic F...

2. Introduction – Basic of Genetics

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Developmental and Genetic Factors in Disease

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3. Mendelian Genetics

4. Mendelian Genetics

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Developmental and Genetic Factors in Disease

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5. Genetic Predisposition to Disease

6. Gene Defects

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Developmental and Genetic Factors in Disease

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7. Abnormal Fetal Development

8. Agenesis

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9. Hypoplasia of Arm - Phocomelia

10. Developmental and Genetic Factors in Disease: Slide 10

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Developmental and Genetic Factors in Disease

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11. Developmental and Genetic Factors in Disease: Slide 11

12. Chromosomal Disorders

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13. Chromosomal Disorders

14. Chromosomal Disorders

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15. Chromosomal Disorders

16. Chromosomal Disorders

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17. Chromosomal Disorders

18. Chromosomal Disorders

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19. Chromosomal Disorders

20. Translocations

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21. Robertsonian Translocation Consequence

22. Karyotype Analysis - Chromosomal Spreads

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23. Nomenclature and Notation of Karyotype Analysis

24. Sex Chromosomes: X inactivation and Barr body formation

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Developmental and Genetic Factors in Disease

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25. Sex Chromosomes: X inactivation and Barr body formation

26. Sex Chromosomes: X inactivation and Barr body formation

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27. Causes of Chromosomal Disorders

28. Chromosomal Disorders

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29. Developmental and Genetic Factors in Disease: Slide 29

30. Abnormalities of Autosomal Chromosomes

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31. Down syndrome - Features

32. Abnormalities of Autosomal Chromosomes

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33. Developmental and Genetic Factors in Disease: Slide 33

34. Abnormalities of Autosomal Chromosomes

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35. Abnormalities of Autosomal Chromosomes

36. Abnormalities of Autosomal Chromosomes

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37. Common Autosomal Trisomies

38. Abnormalities of Sex Chromosomes

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39. Developmental and Genetic Factors in Disease: Slide 39

40. Developmental and Genetic Factors in Disease: Slide 40

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41. Abnormalities of Sex Chromosomes

42. Klinefelter Syndrome - Turner Syndrome

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43. Normal Karyotype

44. Developmental and Genetic Factors in Disease: Slide 44

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45. Abnormalities Due to Increased Numbers of Trinucleotide Repe...

46. Abnormalities Due to Increased Numbers of Trinucleotide Repe...

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47. Fragile X Syndrome

48. Modes of Inheritance of Monogenic Disorders

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49. Modes of Inheritance of Monogenic Disorders

50. Autosomal Dominant Pedigree

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51. Autosomal Dominant Disorders

52. Autosomal Dominant Disorders

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53. Autosomal Dominant Disorders

54. Hereditary Hemorrhagic Telangiectasia

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55. Autosomal Dominant Disorders

56. Autosomal Dominant Disorders

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57. Marfan Syndrome – Aortic Media

58. Autosomal Dominant Disorders

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59. Autosomal Dominant Disorders

60. Neurofibromatosis – Type 1

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61. Autosomal Dominant Disorders

62. Tuberous Sclerosis

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63. Tuberous Sclerosis

64. Autosomal Dominant Disorders

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65. Autosomal Dominant Diseases

66. Dentinogenesis Imperfecta

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67. Modes of Inheritance of Monogenic Disorders

68. Modes of Inheritance of Monogenic Disorders

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69. Autosomal Dominant vs. Autosomal Recessive Inheritance

70. Autosomal Recessive Pedigree

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71. Autosomal Recessive Disorders

72. Lysosomal Storage Diseases - Pathogenesis

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73. Autosomal Recessive Disorders

74. Lysosomal storage diseases

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75. Lysosomal storage diseases

76. Lysosomal storage diseases

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77. Lysosomal Storage Diseases

78. Lysosomal Storage Diseases

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79. Lysosomal Storage Diseases

80. Lysosomal Storage Diseases

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81. Autosomal Recessive Disorders

82. Disorders of Carbohydrate Metabolism - Galactosemia

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83. Mannosidosis - Deficiency of Mannosidase

84. Disorders of Amino Acid Metabolism

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85. Disorders of Amino Acid Metabolism

86. Phenylketonuria

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87. Disorders of Amino Acid Metabolism

88. Ochronosis - Femoral Head

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89. Disorders of Amino Acid Metabolism

90. Autosomal Recessive Disorders

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91. Autosomal Recessive Disorders

92. Cystic Fibrosis

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93. Cystic Fibrosis

94. Modes of Inheritance of Monogenic Disorders

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95. Modes of Inheritance of Monogenic Disorders

96. X-linked Recessive Pedigree

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97. X-linked Recessive Disorders

98. X-linked Recessive Disorders

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99. X-Linked Recessive

100. Von Willebrand Disease

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101. X-linked Recessive Disorders

102. X-Linked Hypohydrotic Ectodermal Dysplasia

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103. Modes of Inheritance of Monogenic Disorders

104. Hypoplastic Amelogenesis Imperfecta

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105. Modes of Inheritance of Monogenic Disorders - Single Gene Me...

106. Mitochondrial Inheritance Pedigree

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107. Non-Classical Inheritance

108. Polygenic (Multifactorial) Inheritance

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109. Polygenic (Multifactorial) Inheritance

110. Polygenic (Multifactorial) Traits –

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111. Causes of Fetal Abnormalities

112. Fetal Abnormalities Caused by External Agents (Teratogens)...

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113. Cleft Palate

114. Enamel Hypoplasia Due to Maternal Toxemia

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115. Fetal Abnormalities Caused by External Agents (Teratogens)...

116. Fetal or Congenital Abnormalities from Teratogens

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117. Methods of Prenatal Diagnosis

118. Newborn Screening Tests

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