Emery's Elements of Medical Genetics

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