Medical genetics / Lynn B. Jorde, John C. Carey, Raymond L. White.

Includes bibliographical references and index.

1. Introduction. What is Medical Genetics? Why is a Knowledge of Medical Genetics Important for Today's Practicing Physician? A Brief History. Types of Genetic Diseases. Clinical Impact of Genetic Disease -- 2. 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 -- 3. Genetic Variation: Its Origin and Detection. Mutation: The Source of Genetic Variation. Detection and Measurement of Genetic Variation -- 4. 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 -- 5. Sex-Linked and Mitochondrial Inheritance. X Inactivation. Sex-Linked Inheritance. Sex-Limited and Sex-Influenced Traits. Mitochondrial Inheritance -- 6. 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 Phenotypes. Cancer Cytogenetics. Chromosome Instability Syndromes -- 7. Gene Mapping. Genetic Mapping. Physical Mapping. Progress Toward a Complete Human Map -- 8. 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 -- 9. Cancer Genetics. Causes of Cancer. Inherited Cancer Genes. Identification of Inherited Cancer Genes. Molecular Basis of Cancer. Is Genetic Inheritance Important in Common Cancers? -- 10. Multifactorial Inheritance and Common Disease. Principles of Multifactorial Inheritance. Nature and Nurture: Disentangling the Effects of Genes and Environment. The Genetics of Common Diseases.

11. Genetic Screening, Genetic Diagnosis, and Gene Therapy. Population Screening for Genetic Disease. Molecular Tools for Screening and Diagnosis. Prenatal Diagnosis of Genetic Disorders and Congenital Defects. Fetal Treatment. Gene Therapy -- 12. Clinical Genetics and Genetic Counseling. The Principles and Practices of Clinical Genetics. Dysmorphology and Clinical Teratology.