Table of Contents
Introduction
1. Chromosomal Basis of Heredity
2. The Human Genome: Structure and Function of Genes and Chromosomes
3. Tools of Human Molecular Genetics
4. Principles of (Clinical) Cytogenetics
5. Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomes
6. Mechanisms of Inheritance part I: Mendelian (or Single-Gene) Patterns
7. Mechanisms of Inheritance part II: Mitochondrial, Imprinted, and Multifactorial Patterns
8. Genetic Variation in Individuals and Populations
9. The Genetic Contribution to Disease: Locating and identifying Disease Genes
10. Principles of Molecular Disease: Lessons from the Hemoglobinopathies
11. The Molecular and Biochemical Basis of Genetic Disease
12. The Treatment of Genetic Disease
13. Developmental Disorders and Birth Defects (Leslie Biesecker)
14. Genetics of Cancer
15. Genetic Counseling and Risk Assessment
16. Molecular Diagnostics
17. Prenatal Diagnosis
18. Genetics and Society
Case Studies
