Emery's Elements of Medical Genetics and Genomics /
Peter D. Turnpenny, Sian Ellard, Ruth Cleaver
- EDITION: 16
- ix,435 pages : photos, tables ; 28 cm
11 copies
The History and Impact of Genetics in Medicine 1 The Scientific Basis of Human Genetics The Cellular and Molecular Basis of Inheritance 10 Chromosomes and Cell Division 26 Finding the Causes of Monogenic Disorders By Identifying Disease Genes 44 Laboratory Techniques for Diagnosis of Monogenic Disorder 51 Patterns of Inheritance 67 Population and Mathematical Genetics 84 Risk Calculation 96 Developmental Genetics 105 Genetics in Medicine and Genetics Common Disease. Polygenic and Multifactorial Genetics 136 Screening for Genetic Disease 151 Hemoglobin and the Hemoglobinopathies 161 Immunogenetics 171 The Genetics of Cancer and Cancer Genetics 184 Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease 210 Clinical Genetics, Counseling and Ethics Congenital Abnormalities Dysmorphic Syndromes and Intellectual Disability 227 Chromosome Disorder 250 Inborn Errors of Metabolism 271 Mainstream Monogenic Disorders 289 Prenatal Testing and Reproductive Genetics 322 Genetic Counseling 338 Ethical and Legal Issues in medical Genetics 345 Glossary 355 Appendix : Websites and Clinical Databases 372 Multiple Choice Questions 374 Case-Based Questions 382 Multiple -Choice Answers 387 Case-Based Answers and Discussion 396 Clinical Scenario Answers and Discussion 403 Index 412