1. Basic Human Pathology Lecture #3 Developmental and ...ocw.tufts.edu/data/51/551169.pdf · 1....
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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
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 1
3. Mendelian Genetics
4. Mendelian Genetics
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Developmental and Genetic Factors in Disease
OCW: Basic Human Pathology: Parts I and II (M. Kahn) Page - 2
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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Developmental and Genetic Factors in Disease
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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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Developmental and Genetic Factors in Disease
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13. Chromosomal Disorders
14. Chromosomal Disorders
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Developmental and Genetic Factors in Disease
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15. Chromosomal Disorders
16. Chromosomal Disorders
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Developmental and Genetic Factors in Disease
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17. Chromosomal Disorders
18. Chromosomal Disorders
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Developmental and Genetic Factors in Disease
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19. Chromosomal Disorders
20. Translocations
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Developmental and Genetic Factors in Disease
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21. Robertsonian Translocation Consequence
22. Karyotype Analysis - Chromosomal Spreads
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Developmental and Genetic Factors in Disease
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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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Developmental and Genetic Factors in Disease
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27. Causes of Chromosomal Disorders
28. Chromosomal Disorders
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Developmental and Genetic Factors in Disease
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29. Developmental and Genetic Factors in Disease: Slide 29
30. Abnormalities of Autosomal Chromosomes
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Developmental and Genetic Factors in Disease
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31. Down syndrome - Features
32. Abnormalities of Autosomal Chromosomes
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Developmental and Genetic Factors in Disease
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33. Developmental and Genetic Factors in Disease: Slide 33
34. Abnormalities of Autosomal Chromosomes
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Developmental and Genetic Factors in Disease
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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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Developmental and Genetic Factors in Disease
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49. Modes of Inheritance of Monogenic Disorders
50. Autosomal Dominant Pedigree
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Developmental and Genetic Factors in Disease
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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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Developmental and Genetic Factors in Disease
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55. Autosomal Dominant Disorders
56. Autosomal Dominant Disorders
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Developmental and Genetic Factors in Disease
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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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Developmental and Genetic Factors in Disease
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61. Autosomal Dominant Disorders
62. Tuberous Sclerosis
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Developmental and Genetic Factors in Disease
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63. Tuberous Sclerosis
64. Autosomal Dominant Disorders
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Developmental and Genetic Factors in Disease
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65. Autosomal Dominant Diseases
66. Dentinogenesis Imperfecta
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Developmental and Genetic Factors in Disease
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67. Modes of Inheritance of Monogenic Disorders
68. Modes of Inheritance of Monogenic Disorders
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Developmental and Genetic Factors in Disease
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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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Developmental and Genetic Factors in Disease
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73. Autosomal Recessive Disorders
74. Lysosomal storage diseases
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Developmental and Genetic Factors in Disease
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75. Lysosomal storage diseases
76. Lysosomal storage diseases
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Developmental and Genetic Factors in Disease
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77. Lysosomal Storage Diseases
78. Lysosomal Storage Diseases
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Developmental and Genetic Factors in Disease
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79. Lysosomal Storage Diseases
80. Lysosomal Storage Diseases
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Developmental and Genetic Factors in Disease
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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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Developmental and Genetic Factors in Disease
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85. Disorders of Amino Acid Metabolism
86. Phenylketonuria
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Developmental and Genetic Factors in Disease
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87. Disorders of Amino Acid Metabolism
88. Ochronosis - Femoral Head
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Developmental and Genetic Factors in Disease
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89. Disorders of Amino Acid Metabolism
90. Autosomal Recessive Disorders
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Developmental and Genetic Factors in Disease
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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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Developmental and Genetic Factors in Disease
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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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Developmental and Genetic Factors in Disease
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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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Developmental and Genetic Factors in Disease
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117. Methods of Prenatal Diagnosis
118. Newborn Screening Tests
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Developmental and Genetic Factors in Disease
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