Background and History - What is Medical Genetics? . Why Is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner? . A Brief History . Types of Genetic Diseases . The Clinical Impact of Genetic Disease Basic Cell Biology: Structure and Function of Genes and Chromosomes - DNA, RNA, and Proteins: Heredity at the Molecular Level . The Structure of Genes and the Genome . The Cell Cycle Genetic Variation: Its Origin and Detection - Mutation - The Source of Genetic Variation . Detection and Measurement of Genetic Variation Autosomal Dominant and Recessive Inheritance - Basic Concepts of Formal Genetics .
Autosomal Dominant Inheritance . Autosomal Recessive Inheritance . Factors That May Complicate Inheritance Patterns . Consanguinity in Human Populations Sex-Linked and Mitochondrial Inheritance - X Inactivation . Sex-Linked Inheritance . Sex-Limited and Sex-Influenced Traits . Mitochondrial Inheritance Clinical Cytogenetics: The Chromosomal Basis of Human Disease - Cytogenetic Technology and Nomenclature . Abnormalities of Chromosome Number .
Chromosome Abnormalities and Pregnancy Loss . Abnormalities of Chromosome Structure . Chromosome Abnormalities and Clinical Phenotype . Cancer Cytogenetics . Chromosome Instability Syndromes Biochemical Genetics: Disorders of Metabolism - Variants of Metabolism . Defects of Metabolic Processes . Pharmacogenetics Gene Mapping and Cloning - Genetic Mapping . Physical Mapping and Cloning .
The Human Genome Project Immunogenetics - The Immune Response: Basic Concepts . Immune Response Proteins: Genetic Basis of Structure and Diversity . The Major Histocompatibility Complex . The ABO and Rh Blood Groups . Immunodeficiency Diseases Developmental Genetics - Development: Basic Concepts . Genetic Mediators of Development: The Molecular Toolbox . Pattern Formation Cancer Genetics - Causes of Cancer . Cancer Genes .
Major Classes of Cancer Genes . Identification of Inherited Cancer Genes . Molecular Basis of Cancer . Is Genetic Inheritance Important in Common Cancers? Multifactorial Inheritance and Common Diseases - Principles of Multifactorial Inheritance . Nature and Nurture: Disentangling the Effects of Genes and Environment . The Genetics of Common Diseases Genetic Screening, Genetic Diagnosis, and Gene Therapy - Population Screening for Genetic Diseases . Molecular Tools for Screening and Diagnosis . Prenatal Diagnosis of Genetic Disorders and Congenital Defects .
Fetal Treatment . Gene Therapy . Human Cloning, Genetic Enhancement, and Embryonic Stem Cell Research Clinical Genetics and Genetic Counseling - The Principles and Practice of Clinical Genetics . Dysmorphology and Clinical Teratology Genetics and Society - Genetics and Privacy . Genetic Discrimination . Societal Implications of New Genetic Technologies Answers to Study Questions Glossary Index.