Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge.
1. Cover image - p. cover 2. Title page - p. iii 3. Table of Contents - p. v 4. Copyright - p. iv 5. Preface - p. viii 6. Acknowledgments - p. ix 7. Dedication - p. x 8. 1. The History and Impact of Genetics in Medicine - p. 1 9. Section A: The Scientific Basis of Human Genetics - p. 10 10. 2. The Cellular and Molecular Basis of Inheritance - p. 10a 11. 3. Chromosomes and Cell Division - p. 26 12. 4. Finding the Cause of Monogenic Disorders by Identifying Disease Genes - p. 44 13. 5. Laboratory Techniques for Diagnosis of Monogenic Disorders - p. 51 14. 6. Patterns of Inheritance - p. 67 15. 7. Population and Mathematical Genetics - p. 84 16. 8. Risk Calculation - p. 96 17. 9. Developmental Genetics - p. 105 18. Section B: Genetics in Medicine and Genomic Medicine - p. 136 19. 10. Common Disease, Polygenic, and Multifactorial Genetics - p. 136a 20. 11. Screening for Genetic Disease - p. 151 21. 12. Hemoglobin and the Hemoglobinopathies - p. 161 22. 13. Immunogenetics - p. 171 23. 14. The Genetics of Cancer…and Cancer Genetics - p. 184 24. 15. Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease - p. 210 25. Section C: Clinical Genetics, Counseling, and Ethics - p. 227 26. 16. Congenital Abnormalities, Dysmorphic Syndromes, and Intellectual Disability - p. 227a 27. 17. Chromosome Disorders - p. 250 28. 18. Inborn Errors of Metabolism - p. 271 29. 19. Mainstream Monogenic Disorders - p. 289 30. 20. Prenatal Testing and Reproductive Genetics - p. 322 31. 21. Genetic Counseling - p. 338 32. 22. Ethical and Legal Issues in Medical Genetics - p. 345 33. Glossary - p. 355 34. Appendix: Websites and Clinical Databases - p. 372 35. Multiple-Choice Questions - p. 374 36. Case-Based Questions - p. 382 37. Multiple-Choice Answers - p. 387 38. Case-Based Answers and Discussion - p. 396 39. Clinical Scenario Answers and Discussion - p. 403 40. Index - p. 412
Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge.
1. Cover image - p. cover 2. Title page - p. iii 3. Table of Contents - p. v 4. Copyright - p. iv 5. Preface - p. viii 6. Acknowledgments - p. ix 7. Dedication - p. x 8. 1. The History and Impact of Genetics in Medicine - p. 1 9. Section A: The Scientific Basis of Human Genetics - p. 10 10. 2. The Cellular and Molecular Basis of Inheritance - p. 10a 11. 3. Chromosomes and Cell Division - p. 26 12. 4. Finding the Cause of Monogenic Disorders by Identifying Disease Genes - p. 44 13. 5. Laboratory Techniques for Diagnosis of Monogenic Disorders - p. 51 14. 6. Patterns of Inheritance - p. 67 15. 7. Population and Mathematical Genetics - p. 84 16. 8. Risk Calculation - p. 96 17. 9. Developmental Genetics - p. 105 18. Section B: Genetics in Medicine and Genomic Medicine - p. 136 19. 10. Common Disease, Polygenic, and Multifactorial Genetics - p. 136a 20. 11. Screening for Genetic Disease - p. 151 21. 12. Hemoglobin and the Hemoglobinopathies - p. 161 22. 13. Immunogenetics - p. 171 23. 14. The Genetics of Cancer…and Cancer Genetics - p. 184 24. 15. Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease - p. 210 25. Section C: Clinical Genetics, Counseling, and Ethics - p. 227 26. 16. Congenital Abnormalities, Dysmorphic Syndromes, and Intellectual Disability - p. 227a 27. 17. Chromosome Disorders - p. 250 28. 18. Inborn Errors of Metabolism - p. 271 29. 19. Mainstream Monogenic Disorders - p. 289 30. 20. Prenatal Testing and Reproductive Genetics - p. 322 31. 21. Genetic Counseling - p. 338 32. 22. Ethical and Legal Issues in Medical Genetics - p. 345 33. Glossary - p. 355 34. Appendix: Websites and Clinical Databases - p. 372 35. Multiple-Choice Questions - p. 374 36. Case-Based Questions - p. 382 37. Multiple-Choice Answers - p. 387 38. Case-Based Answers and Discussion - p. 396 39. Clinical Scenario Answers and Discussion - p. 403 40. Index - p. 412
