Description
Everything a student needs to know about medical genetics is here in the 15th edition of this award-winning textbook. Thoroughly updated and revised throughout to map a fast-moving area, the 15th edition continues Emery's enviable reputation for successfully balancing up-to-dateness in a rapidly developing field with a strong basis in practical clinical genetics for medical students. With MCQs and Case-Based Review Questions, end of chapter summaries, it is the essential tool for this complex but foundational topic for all medical undergraduates, as well as postgraduates seeking to improve their understanding and knowledge.Divided into three restructured sections to make the book easier to use for a variety of readers: Scientific Basis of Human Genetics; Genetics in Medicine and Genomic Medicine; Clinical Genetics, Counselling and Ethics•Interactive self-assessment questions•Case-based questions•Online hyperlinks to important genetics websites and clinical databases.•Update of clinical figures to include more full-colour images•An extensive glossary of terms•Full colour art to visualise the appearance of genetic disorders and assist with the understanding of complex genetic structures•Explore the social, ethical and counselling issues surrounding the study and treatment of genetic disorders.•Elements boxes at the end of each chapter summarizing the basics at a glance.
Table of Contents
PrefaceIntroduction1 The history and impact of genetics in medicineA. 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 geneticsB. Genetics in Medicine and Genomic Medicine10 Common disease, polygenic and multifactorial genetics11 Screening for genetic disease12 Hemoglobin and hemoglobinopathies13 Immunogenetics14 The genetics of cancer … and cancer genetics15 Pharmacogenetics, personalised medicine, and the treatment of genetic diseaseC. Clinical Genetics, Counseling and Ethics16 Congenital abnormalities, dysmorphic syndromes, and learning disability17 Chromosome disorders18 Inborn errors of metabolism19 Mainstream monogenic disorders20 Prenatal testing and reproductive genetics21 Genetic counseling22 Ethical and legal issues in medical geneticsGlossaryAppendix of websitesMCQsCase-Based QsMCQ AnswersCase-Based Q AnswersIndex
