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Pritchard. Genetics at a glance. 3e. 2013.

Section I: Overview
1. The place of genetics in medicine
Section II: The Mendelian approach
2. Pedigree drawing
3. Mendel’s laws
4. Principles of autosomal dominant inheritance, and Pharmacogenetics
5. Autosomal dominant inheritance, clinical examples
6. Autosomal recessive inheritance, principles
7. Consanguinity and major disabling autosomal recessive conditions
8. Autosomal recessive inheritance, life threatening conditions
9. Aspects of dominance
10. X-linked and Y-linked inheritance
11. X-linked inheritance, clinical examples
12. Mitochondrial inheritance
13. Risk assessment in Mendelian conditions
Section III: Basic cell biology
14. The cell
15. The chromosomes
16. The cell cycle
17. Biochemistry of the cell cycle
18. Gametogenesis
Section IV: Basic molecular biology
19. DNA structure
20. DNA replication
21. The structure of genes
22. Production of messenger RNA
23. Non-coding RNA
24. Protein synthesis
Section V: Genetic variation
25. Types of genetic alterations
26. Mutagenesis and DNA repair
27. Genomic imprinting
28. Dynamic mutation
29. Normal polymorphism
30. Allele frequency
Section VI: Organization of the human genome
31. Genetic linkage and genetic association
32.  Physical gene mapping
33. Gene identification
34. Clinical application of linkage and association
Section VII: Cytogenetics
35. Chromosome analysis
36. Autosomal aneuploidies
37. Sex chromosome aneuploidies
38. Chromosome structural abnormalities
39. Chromosome structural abnormalities, clinical examples
40. Contiguous gene and single gene syndromes
Section VIII: Embryology and congenital abnormalities
41. Human embryology in outline
42. Body patterning
43. Sexual differentiation
44. Abnormalities of sex determination
45. Congenital abnormalities, pre-embryonic, embryonic and of intrinsic causation
46. Congenital abnormalities arising at the foetal stage
47. Development of the heart
48. Cardiac abnormalities
49. Facial development and dysmorphology
Section IX: Multifactorial inheritance and twin studies
50. Principles of multifactorial disease
51. Multifactorial disease in children
52. Common disorders of adult life
53. Twin studies
Section X: Cancer
54. The signal transduction cascade
55. The eight hallmarks of cancer
56. Familial cancers
57. Genomic approaches to cancer management
Section XI: Biochemical genetics
58. Disorders of amino acid metabolism
59. Disorders of carbohydrate metabolism
60. Heavy metal transport, lipid metabolism and amino acid catabolism defects
61. Disorders of porphyrin and purine metabolism and the urea/ornithine cycle
62. Lysosomal, glycogen storage and peroxisomal diseases
63. Biochemical diagnosis
Section XII: Immunogenetics
64. Immunogenetics, cellular and molecular aspects
65. Genetic disorders of the immune system
66.  Autoimmunity, HLA and transplantation
Section XIII: Molecular diagnosis
67. DNA hybridization-based analysis systems
68. DNA sequencing
69. The polymerase chain reaction
70. DNA profiling
Section XIV: Genetic counselling, disease management, ethical and social issues
71. Reproductive genetic counselling
72. Prenatal sampling
73. Avoidance and prevention of disease
74. Management of genetic disease
75. Ethical and social issues in clinical genetics

Self-assessment case studies: questions
Self-assessment case studies: answers
Appendix: information sources and resources