Thompson & Thompson Genetics and Genomics in Medicine
1. Chapter 1. Introduction - p. 1 2. Chapter 2. Introduction to the Human Genome - p. 5 3. Chapter 3. The Human Genome: Gene Structure and Function - p. 23 4. Chapter 4. Human Genetic Diversity: Human Genetic Diversity: Genomic Variation - p. 45 5. Chapter 5. Principles of Clinical Cytogenetics and Genome Analysis - p. 61 6. Chapter 6. The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes - p. 79 7. Chapter 7. Patterns of Single-Gene Inheritance - p. 109 8. Chapter 8. Principles of Clinical Epigenetics - p. 135 9. Chapter 9. Complex Inheritance of Common Multifactorial Disorders - p. 149 10. Chapter 10. Population Genetics for Genomic Medicine - p. 175 11. Chapter 11. Identifying the Genetic Basis for Human Disease - p. 203 12. Chapter 12. The Molecular Basis of Genetic Disease - p. 231 13. Chapter 13. The Molecular, Biochemical, and Cellular Basis of Genetic Disease - p. 251 14. Chapter 14. The Treatment of Genetic Disease - p. 293 15. Chapter 15. Developmental Genetics and Birth Defects - p. 321 16. Chapter 16. Cancer Genetics and Genomics - p. 347 17. Chapter 17. Genetic Counseling and Risk Assessment - p. 373 18. Chapter 18. Preconception and Prenatal Screening and Diagnosis - p. 391 19. Chapter 19. Application of Genomics to Medicine and Individualized Health Care - p. 411 20. Chapter 20. Ethical and Social Issues in Genetics and Genomics - p. 425 21. Clinical Case Studies Illustrating Genetic Principles - p. 435 22. Case Presentations - p. 435 23. 1. Abacavir-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (MIM 608579) (Genetically Determined Immunological Adverse Drug Reaction) - p. 435 24. 2. Achondroplasia (MIM 100800) (FGFR3 Pathogenic Variant) - p. 437 25. 3. Age-Related Macular Degeneration (MIM 603075) (Complement Factor H Variants) - p. 440 26. 4. Alzheimer Disease (MIM 104300) - p. 443 27. 5. 16p11.2 Deletion Syndrome (MIM 611913) - p. 446 28. 6. Beckwith-Wiedemann Syndrome (MIM 130650) (Uniparental Disomy and Imprinting Defect) - p. 449 29. 7. Hereditary Breast and Ovarian Cancer (MIM 604370, 612555) (BRCA1 and BRCA2 Pathogenic Variants) - p. 453 30. 8. Charcot-Marie-Tooth Disease Type 1 A (MIM 118220) (PMP22 Sequence Variant or Duplication) - p. 455 31. 9. CHARGE Syndrome (MIM 214800) (CHD7 Disorder) - p. 457 32. 10. Chronic Myelogenous Leukemia (MIM 608232) (BCR-ABL1 Oncogene) - p. 459 33. 11. Inflammatory Bowel Disease (MIM 266600) - p. 461 34. 12. Cystic Fibrosis (MIM 219700) (CFTR Pathogenic Variants) - p. 464 35. 13. Hearing Loss (NonSyndromic) (MIM 220290) (GJB2 Pathogenic Variants) - p. 469 36. 14. Duchenne Muscular Dystrophy (MIM 310200) (Dystrophin [DMD] Pathogenic Variants) - p. 471 37. 15. Monogenic Diabetes (MIM 600496) (Single Gene Pathogenic Variants Impacting Pancreatic Islet β Cell Development and/or Function) - p. 474 38. 16. Familial Hypercholesterolemia (MIM 143890) (Low-Density Lipoprotein Receptor [LDLR] Variants) - p. 478 39. Principles - p. 480 40. Major Phenotypic Features - p. 480 41. History and Physical Findings - p. 480 42. Background - p. 480 43. Questions for Small Group Discussion - p. 482 44. References - p. 482 45. 17. Fragile X Syndrome (MIM 300624), Fragile X–Associated Tremor/Ataxia Syndrome (FXTAS) (MIM 300623), and Fragile X–Associated Primary Ovarian Insufficiency (FXPOI) (MIM 311360) (Pathogenic FMR1 Repeat Expansion) - p. 482 46. 18. GAUCHER DISEASE Type I (Non-Neuronopathic) (MIM 230800) (GBA Pathogenic Variants) - p. 486 47. 19. Glucose-6-Phosphate Dehydrogenase Deficiency (MIM 300908) (G6PD Pathogenic Variants) - p. 490 48. 20. Hereditary Hemochromatosis (MIM 235200) (HFE Pathogenic Variants) - p. 494 49. 21. Hemophilia (MIM 306700 and MIM 306900) (F8 or F9 Pathogenic Variants) - p. 497 50. 22. 22q11.2 Deletion Syndrome (MIM 188400 DiGeorge Syndrome or MIM 192430 Velocardiofacial Syndrome) - p. 500 51. 23. Holoprosencephaly (Nonsyndromic Form) (MIM 142945) (Sonic Hedgehog [SHH] variants) - p. 504 52. 24. Huntington Disease (MIM 143100) (HTT Pathogenic Variant [CAG Expansion]) - p. 508 53. 25. Hypertrophic Cardiomyopathy (MIM 192600) (Cardiac Sarcomere Gene Variants) - p. 512 54. 26. Proteus Syndrome (MIM 176920) (AKT1 Gene de novo Mosaic Variant) - p. 515 55. 27. Fetal Growth Restriction (Abnormal Fetal Karyotype) - p. 518 56. 28. Long QT Syndrome (MIM 192500) (Cardiac Ion Channel Gene) - p. 522 57. 29. Lynch Syndrome (MIM 120435) (DNA Mismatch Repair Genes Pathogenic Variants) - p. 526 58. 30. Marfan Syndrome (MIM 154700) (FBN1 Pathogenic Variants) - p. 529 59. 31. Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MIM 201450) (ACADM Pathogenic Variation) - p. 532 60. 32. Miller-Dieker Syndrome (MIM 247200) (17p13.3 Heterozygous Deletion) - p. 536 61. 33. Myoclonic Epilepsy With Ragged-Red Fibers (MIM 545000) (Mitochondrial tRNAlys Variant) - p. 540 62. Principles - p. 542 63. Major Phenotypic Features - p. 542 64. Case Report - p. 542 65. Background - p. 542 66. Phenotype and Natural History - p. 543 67. Management - p. 543 68. Inheritance - p. 543 69. Questions for Small Group Discussion - p. 543 70. References - p. 543 71. 34. Neurofibromatosis 1 (MIM 162200) (NF1 Pathogenic Variants) - p. 543 72. 35. Roifman Syndrome (MIM 616651) RNU4ATAC Noncoding RNA Gene Pathogenic Variants - p. 547 73. 36. Ornithine Transcarbamylase Deficiency (MIM 311250) (OTC Pathogenic Variant) - p. 550 74. 37. Polycystic Kidney Disease (MIM 173900 and MIM 613095) (PKD1 or PKD2 Pathogenic Variants) - p. 554 75. 38. Prader-Willi Syndrome (MIM 176270) (Absence of Paternally Derived 15q11-q13) - p. 558 76. 39. Retinoblastoma (MIM 180200) (RB1 Pathogenic Variants) - p. 563 77. 40. Rett Syndrome (MIM 312750) (MECP2 Variants) - p. 565 78. 41. Noonan Syndrome (RASopathies) (MIM 163950) - p. 567 79. 42. Sickle Cell Disease (MIM 603903) - p. 569 80. 43. Tay-TAY-Sachs Disease (MIM 272800) (HEXA Pathogenic Variants) - p. 571 81. 44. α-Thalassemia (α-Globin Deficiency) (MIM 604131) - p. 574 82. 45. Thiopurine S-Methyltransferase Deficiency (MIM 610460) (TPMT Variants) - p. 577 83. 46. Thrombophilia (MIM 188055 and 176860) (FV and PROC Pathogenic Variants) - p. 579 84. 47. Turner Syndrome (Female Monosomy X) Chromosomal - p. 583 85. 48. Xeroderma Pigmentosum (MIM 278700) (Defect of Nucleotide Excision Repair, XPA Pathogenic Variants) - p. 586 86. 49. Telomere-Related Pulmonary Fibrosis and/or Bone Marrow Failure (MIM 614742) (TERT Pathogenic Variants) - p. 590 87. Glossary - p. 595 88. Answers to Problems - p. 615 89. Index - p. 631 90. Confidence is ClinicalKey - p. 645
Thompson & Thompson Genetics and Genomics in Medicine
1. Chapter 1. Introduction - p. 1 2. Chapter 2. Introduction to the Human Genome - p. 5 3. Chapter 3. The Human Genome: Gene Structure and Function - p. 23 4. Chapter 4. Human Genetic Diversity: Human Genetic Diversity: Genomic Variation - p. 45 5. Chapter 5. Principles of Clinical Cytogenetics and Genome Analysis - p. 61 6. Chapter 6. The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes - p. 79 7. Chapter 7. Patterns of Single-Gene Inheritance - p. 109 8. Chapter 8. Principles of Clinical Epigenetics - p. 135 9. Chapter 9. Complex Inheritance of Common Multifactorial Disorders - p. 149 10. Chapter 10. Population Genetics for Genomic Medicine - p. 175 11. Chapter 11. Identifying the Genetic Basis for Human Disease - p. 203 12. Chapter 12. The Molecular Basis of Genetic Disease - p. 231 13. Chapter 13. The Molecular, Biochemical, and Cellular Basis of Genetic Disease - p. 251 14. Chapter 14. The Treatment of Genetic Disease - p. 293 15. Chapter 15. Developmental Genetics and Birth Defects - p. 321 16. Chapter 16. Cancer Genetics and Genomics - p. 347 17. Chapter 17. Genetic Counseling and Risk Assessment - p. 373 18. Chapter 18. Preconception and Prenatal Screening and Diagnosis - p. 391 19. Chapter 19. Application of Genomics to Medicine and Individualized Health Care - p. 411 20. Chapter 20. Ethical and Social Issues in Genetics and Genomics - p. 425 21. Clinical Case Studies Illustrating Genetic Principles - p. 435 22. Case Presentations - p. 435 23. 1. Abacavir-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (MIM 608579) (Genetically Determined Immunological Adverse Drug Reaction) - p. 435 24. 2. Achondroplasia (MIM 100800) (FGFR3 Pathogenic Variant) - p. 437 25. 3. Age-Related Macular Degeneration (MIM 603075) (Complement Factor H Variants) - p. 440 26. 4. Alzheimer Disease (MIM 104300) - p. 443 27. 5. 16p11.2 Deletion Syndrome (MIM 611913) - p. 446 28. 6. Beckwith-Wiedemann Syndrome (MIM 130650) (Uniparental Disomy and Imprinting Defect) - p. 449 29. 7. Hereditary Breast and Ovarian Cancer (MIM 604370, 612555) (BRCA1 and BRCA2 Pathogenic Variants) - p. 453 30. 8. Charcot-Marie-Tooth Disease Type 1 A (MIM 118220) (PMP22 Sequence Variant or Duplication) - p. 455 31. 9. CHARGE Syndrome (MIM 214800) (CHD7 Disorder) - p. 457 32. 10. Chronic Myelogenous Leukemia (MIM 608232) (BCR-ABL1 Oncogene) - p. 459 33. 11. Inflammatory Bowel Disease (MIM 266600) - p. 461 34. 12. Cystic Fibrosis (MIM 219700) (CFTR Pathogenic Variants) - p. 464 35. 13. Hearing Loss (NonSyndromic) (MIM 220290) (GJB2 Pathogenic Variants) - p. 469 36. 14. Duchenne Muscular Dystrophy (MIM 310200) (Dystrophin [DMD] Pathogenic Variants) - p. 471 37. 15. Monogenic Diabetes (MIM 600496) (Single Gene Pathogenic Variants Impacting Pancreatic Islet β Cell Development and/or Function) - p. 474 38. 16. Familial Hypercholesterolemia (MIM 143890) (Low-Density Lipoprotein Receptor [LDLR] Variants) - p. 478 39. Principles - p. 480 40. Major Phenotypic Features - p. 480 41. History and Physical Findings - p. 480 42. Background - p. 480 43. Questions for Small Group Discussion - p. 482 44. References - p. 482 45. 17. Fragile X Syndrome (MIM 300624), Fragile X–Associated Tremor/Ataxia Syndrome (FXTAS) (MIM 300623), and Fragile X–Associated Primary Ovarian Insufficiency (FXPOI) (MIM 311360) (Pathogenic FMR1 Repeat Expansion) - p. 482 46. 18. GAUCHER DISEASE Type I (Non-Neuronopathic) (MIM 230800) (GBA Pathogenic Variants) - p. 486 47. 19. Glucose-6-Phosphate Dehydrogenase Deficiency (MIM 300908) (G6PD Pathogenic Variants) - p. 490 48. 20. Hereditary Hemochromatosis (MIM 235200) (HFE Pathogenic Variants) - p. 494 49. 21. Hemophilia (MIM 306700 and MIM 306900) (F8 or F9 Pathogenic Variants) - p. 497 50. 22. 22q11.2 Deletion Syndrome (MIM 188400 DiGeorge Syndrome or MIM 192430 Velocardiofacial Syndrome) - p. 500 51. 23. Holoprosencephaly (Nonsyndromic Form) (MIM 142945) (Sonic Hedgehog [SHH] variants) - p. 504 52. 24. Huntington Disease (MIM 143100) (HTT Pathogenic Variant [CAG Expansion]) - p. 508 53. 25. Hypertrophic Cardiomyopathy (MIM 192600) (Cardiac Sarcomere Gene Variants) - p. 512 54. 26. Proteus Syndrome (MIM 176920) (AKT1 Gene de novo Mosaic Variant) - p. 515 55. 27. Fetal Growth Restriction (Abnormal Fetal Karyotype) - p. 518 56. 28. Long QT Syndrome (MIM 192500) (Cardiac Ion Channel Gene) - p. 522 57. 29. Lynch Syndrome (MIM 120435) (DNA Mismatch Repair Genes Pathogenic Variants) - p. 526 58. 30. Marfan Syndrome (MIM 154700) (FBN1 Pathogenic Variants) - p. 529 59. 31. Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MIM 201450) (ACADM Pathogenic Variation) - p. 532 60. 32. Miller-Dieker Syndrome (MIM 247200) (17p13.3 Heterozygous Deletion) - p. 536 61. 33. Myoclonic Epilepsy With Ragged-Red Fibers (MIM 545000) (Mitochondrial tRNAlys Variant) - p. 540 62. Principles - p. 542 63. Major Phenotypic Features - p. 542 64. Case Report - p. 542 65. Background - p. 542 66. Phenotype and Natural History - p. 543 67. Management - p. 543 68. Inheritance - p. 543 69. Questions for Small Group Discussion - p. 543 70. References - p. 543 71. 34. Neurofibromatosis 1 (MIM 162200) (NF1 Pathogenic Variants) - p. 543 72. 35. Roifman Syndrome (MIM 616651) RNU4ATAC Noncoding RNA Gene Pathogenic Variants - p. 547 73. 36. Ornithine Transcarbamylase Deficiency (MIM 311250) (OTC Pathogenic Variant) - p. 550 74. 37. Polycystic Kidney Disease (MIM 173900 and MIM 613095) (PKD1 or PKD2 Pathogenic Variants) - p. 554 75. 38. Prader-Willi Syndrome (MIM 176270) (Absence of Paternally Derived 15q11-q13) - p. 558 76. 39. Retinoblastoma (MIM 180200) (RB1 Pathogenic Variants) - p. 563 77. 40. Rett Syndrome (MIM 312750) (MECP2 Variants) - p. 565 78. 41. Noonan Syndrome (RASopathies) (MIM 163950) - p. 567 79. 42. Sickle Cell Disease (MIM 603903) - p. 569 80. 43. Tay-TAY-Sachs Disease (MIM 272800) (HEXA Pathogenic Variants) - p. 571 81. 44. α-Thalassemia (α-Globin Deficiency) (MIM 604131) - p. 574 82. 45. Thiopurine S-Methyltransferase Deficiency (MIM 610460) (TPMT Variants) - p. 577 83. 46. Thrombophilia (MIM 188055 and 176860) (FV and PROC Pathogenic Variants) - p. 579 84. 47. Turner Syndrome (Female Monosomy X) Chromosomal - p. 583 85. 48. Xeroderma Pigmentosum (MIM 278700) (Defect of Nucleotide Excision Repair, XPA Pathogenic Variants) - p. 586 86. 49. Telomere-Related Pulmonary Fibrosis and/or Bone Marrow Failure (MIM 614742) (TERT Pathogenic Variants) - p. 590 87. Glossary - p. 595 88. Answers to Problems - p. 615 89. Index - p. 631 90. Confidence is ClinicalKey - p. 645
