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 and convenient online access, 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.
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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
•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.
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
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
Appendix of websites
Case-Based Q Answers