Preface Introduction 1 The history and impact of genetics in medicine A. The Scientific Basis of Human Genetics 2 The cellular and molecular basis of inheritance 3 Chromosomes and cell division 4 Finding the cause of monogenic disorders by identifying disease genes 5 Laboratory techniques for diagnosis of monogenic disorders 6 Patterns of inheritance 7 Population and mathematical genetics 8 Risk calculation 9 Developmental genetics B. Genetics in Medicine and Genomic Medicine 10 Common disease, polygenic and multifactorial genetics 11 Screening for genetic disease 12 Hemoglobin and hemoglobinopathies 13 Immunogenetics 14 The genetics of cancer ... and cancer genetics 15 Pharmacogenetics, personalised medicine, and the treatment of genetic disease C. Clinical Genetics, Counseling and Ethics 16 Congenital abnormalities, dysmorphic syndromes, and learning disability 17 Chromosome disorders 18 Inborn errors of metabolism 19 Mainstream monogenic disorders 20 Prenatal testing and reproductive genetics 21 Genetic counseling 22 Ethical and legal issues in medical genetics Glossary Appendix of websites MCQs Case-Based Qs MCQ Answers Case-Based Q Answers Index Skryť popis