Thompson & Thompson Genetics in Medicine, 8th Edition

CHAPTER 1. Introduction

CHAPTER 2. Introduction to the Human Genome

CHAPTER 3. The Human Genome

CHAPTER 4. Human Genetic Diversity

CHAPTER 5. Principles of Clinical Cytogenetics and Genome Analysis

CHAPTER 6. The Chromosomal and Genomic Basis of Disease

CHAPTER 7. Patterns of Single-Gene Inheritance

CHAPTER 8. Complex Inheritance of Common Multifactorial Disorders

CHAPTER 9. Genetic Variation in Populations

CHAPTER 10. Identifying the Genetic Basis for Human Disease

CHAPTER 11. The Molecular Basis of Genetic Disease

CHAPTER 12. The Molecular, Biochemical, and Cellular Basis of Genetic Disease

CHAPTER 13. The Treatment of Genetic Disease

CHAPTER 14. Developmental Genetics and Birth Defects

CHAPTER 15. Cancer Genetics and Genomics

CHAPTER 16. Risk Assessment and Genetic Counseling

CHAPTER 17. Prenatal Diagnosis and Screening

CHAPTER 18. Application of Genomics to Medicine and Personalized Health Care

CHAPTER 19. Ethical and Social Issues in Genetics and Genomics

Case 1. Abacavir-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis

Case 2. Achondroplasia (FGFR3 Mutation, MIM 100800)

Case 3. Age-Related Macular Degeneration (Complement Factor H Variants, MIM 603075)

Case 4. Alzheimer Disease (Cerebral Neuronal Dysfunction and Death, MIM 104300)

Case 5. Autism/16p11.2 Deletion Syndrome (Susceptibility to Autism Spectrum Disorders, MIM 611913)

Case 6. Beckwith-Wiedemann Syndrome (Uniparental Disomy and Imprinting Defect, MIM 130650)

Case 7. Hereditary Breast and Ovarian Cancer (BRCA1 and BRCA2 Mutations)

Case 8. Charcot-Marie-Tooth Disease Type 1a (PMP22 Mutation or Duplication, MIM 118220)

Case 9. Charge Syndrome (CHD7 Mutation, MIM 214800)

Case 10. Chronic Myelogenous Leukemia (BCR-ABL1 Oncogene)

Case 11. Crohn Disease (Increased Risk from NOD2 Mutations)

Case 12. Cystic Fibrosis (CFTR Mutation, MIM 219700)

Case 13. Deafness (Nonsyndromic) (GJB2 Mutation, MIM 220290)

Case 14. Duchenne Muscular Dystrophy (Dystrophin [DMD] Mutation, MIM 310200)

Case 15. Familial Adenomatous Polyposis (APC Mutation, MIM 175100)

Case 16. Familial Hypercholesterolemia (Low-Density Lipoprotein Receptor [LDLR] Mutation, MIM 143890)

Case 17. Fragile X Syndrome (FMR1 Mutation, MIM 300624)

Case 18. Type I (Non-Neuronopathic) Gaucher Disease (GBA1 Mutation, MIM 230800)

Case 19. Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD Mutation, MIM 305900)

Case 20. Hereditary Hemochromatosis (HFE Mutation, MIM 235200)

Case 21. Hemophilia (F8 or F9 Mutation, MIM 307600 and MIM 306900)

Case 22. Hirschsprung Disease (Neurocristopathy, MIM 142623)

Case 23. Holoprosencephaly (Nonsyndromic Form)

Case 24. Huntington Disease (HD Mutation, MIM 143100)

Case 25. Hypertrophic Cardiomyopathy (Cardiac Sarcomere Gene Mutations, MIM 192600)

Case 26. Insulin-Dependent (Type 1) Diabetes Mellitus (Autoimmune Destruction of Islet β Cells, MIM 222100)

Case 27. Intrauterine Growth Restriction (Abnormal Fetal Karyotype)

Case 28. Long QT Syndrome (Cardiac Ion Channel Gene Mutations; MIM 192500)

Case 29. Lynch Syndrome (DNA Mismatch Repair Gene Mutations, MIM 120435)

Case 30. Marfan Syndrome (FBN1 Mutation, MIM 154700)

Case 31. Medium-Chain Acyl-CoA Dehydrogenase Deficiency (ACADM Mutation, MIM 201450)

Case 32. Miller-Dieker Syndrome (17p13.3 Heterozygous Deletion, MIM 247200)

Case 33. Myoclonic Epilepsy with Ragged-Red Fibers (Mitochondrial tRNAlys Mutation, MIM 545000)

Case 34. Neurofibromatosis 1 (NF1 Mutation, MIM 162200)

Case 35. Non–Insulin-Dependent (Type 2) Diabetes Mellitus

Case 36. Ornithine Transcarbamylase Deficiency (OTC Mutation, MIM 311250)

Case 37. Polycystic Kidney Disease (PKD1 and PKD2 Mutations, MIM 173900 and MIM 613095)

Case 38. Prader-Willi Syndrome (Absence of Paternally Derived 15q11-q13, MIM 176270)

Case 39. Retinoblastoma (RB1 Mutation, MIM 180200)

Case 40. Rett Syndrome (Mepc2 Mutations, MIM 312750)

Case 41. Sex Development Disorder (46,XX Male) (SRY Translocation, MIM 400045)

Case 42. Sickle Cell Disease (β-Globin Glu6Val Mutation, MIM 603903)

Case 43. Tay-Sachs Disease (HEXA Mutation, MIM 272800)

Case 44. Thalassemia (α- or β-Globin Deficiency, MIM 141800 and MIM 613985)

Case 45. Thiopurine S-Methyltransferase Deficiency (TPMT Polymorphisms, MIM 610460)

Case 46. Thrombophilia (FV and PROC Mutations, MIM 188055 and MIM 176860)

Case 47. Turner Syndrome (Female Monosomy X)

Case 48. Xeroderma Pigmentosum (Defect of Nucleotide Excision Repair)

Glossary

Sources and Acknowledgments

Answers to Problems