CHAPTER 1 Introduction
CHAPTER 2 Introduction to the Human Genome
CHAPTER 3 The Human Genome: Gene Structure and Function
CHAPTER 4 Human Genetic Diversity: Genomic Variation
CHAPTER 5 Principles of Clinical Cytogenetics and Genome Analysis
CHAPTER 6 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes
CHAPTER 7 Patterns of Single-Gene Inheritance
CHAPTER 8 Principles of Clinical Epigenetics
CHAPTER 9 Complex Inheritance of Common Multifactorial Disorders
CHAPTER 10 Population Genetics for Genomic Medicine
CHAPTER 11 Identifying the Genetic Basis for Human Disease
CHAPTER 12 The Molecular Basis of Genetic Disease
CHAPTER 13 The Molecular, Biochemical, and Cellular Basis of Genetic Disease
CHAPTER 14 The Treatment of Genetic Disease
CHAPTER 15 Developmental Genetics and Birth Defects
CHAPTER 16 Cancer Genetics and Genomics
CHAPTER 17 Genetic Counseling and Risk Assessment
CHAPTER 18 Preconception and Prenatal Screening and Diagnosis
CHAPTER 19 Application of Genomics to Medicine and Individualized Health Care
CHAPTER 20 Ethical and Social Issues in Genetics and Genomics
Clinical Case Studies Illustrating Genetic Principles
Glossary
Answers to Problems
Index