Description
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.- Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review.- Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics.- Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics.- Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures.- Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more.- Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver.
Table of Contents
1 The History and Impact of Genetics in MedicineSection A: The Scientific Basis of Human Genetics2 The Cellular and Molecular Basis of Inheritance3 Chromosomes and Cell Division4 Finding the Cause of Monogenic Disorders by Identifying Disease Genes5 Laboratory Techniques for Diagnosis of Monogenic Disorders6 Patterns of Inheritance7 Population and Mathematical Genetics8 Risk Calculation9 Developmental GeneticsSection B: Genetics in Medicine and Genomic Medicine10 Common Disease, Polygenic and Multifactorial Genetics11 Screening for Genetic Disease12 Haemoglobin and the Haemoglobinopathies13 Immunogenetics14 The Genetics of Cancer. . .and Cancer Genetics15 Pharmacogenomics, Precision Medicine and the Treatment of Genetic DiseaseSection C: Clinical Genetics, Counselling and Ethics16 Congenital Abnormalities, Dysmorphic Syndromes and Intellectual Disability17 Chromosome Disorders18 Inborn Errors of Metabolism19 Mainstream Monogenic Disorders20 Prenatal Testing and Reproductive Genetics21 Genetic Counselling22 Ethical and Legal Issues in Medical Genetics
