Sources and Acknowledgments

01 Introduction

02 Introduction to the Human Genome

03 The Human Genome: Gene Structure and Function

04 Human Genetic Diversity: Genomic Variation

05 Principles of Clinical Cytogenomics and Genome Analysis

06 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes

07 Patterns of Single-Gene Inheritance

08 Complex Inheritance of Common Multifactorial Disorders

09 Genetic Variation in Populations

10 Identifying the Genetic Basis for Human Disease

11 The Molecular Basis of Genetic Disease

12 The Molecular, Biochemical, and Cellular Basis of Genetic Disease

13 The Treatment of Genetic Disease

14 Developmental Genetics and Birth Defects

15 Cancer Genetics and Genomics

16 Risk Assessment and Genetic Counseling

17 Preconception and Prenatal Screening and Diagnosis

18 Application of Genomics to Medicine and Individualized Health Care

19 Ethical and Social Issues in Genetics and Genomics
Epigenetics
Cases: Clinical Case Studies Illustrating Genetic Principles
Glossary
Answers to Problems

Index