Medical Genetics

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