CHAPTER 1 Introduction 1.1 The Birth and Development of Genetics and Genomics 1.2 Categories of Genetic Disease 1.3 Onward CHAPTER 2 Chromosomal Basis Heredity 2.1 The Human Genome and the Chromosomal Basis of Heredity 2.2 Transmission of the Genome 2.3 Human Gametogenesis and Fertilization 2.4 The Human Kaxyotype 2.5 Medical Relevance of Mitosis and Meiosis CHAPTER 3 Patterns of Single-Gene Inheritance 3.1 Overview and Concepts 3.2 Pedigrees 3.3 Mendelian Inheritance 3.4 Autosomal Patterns of Mendelian Inheritance 3.5 X-Linked Inheritance 3.6 Pseudoautosomal Inheritance 3.7 Mosaicism 3.8 Parent-of-Origin Effects on Inheritance Patterns 3.9 Dynamic Mutations: Unstable Repeat Expansions 3.10 Correlating Genotype and Phenotype 3.11 Importance of the Family History in Medical Practice CHAPTER 4 Principle of Clinical Cytogenetics 4.1 Introduction to Cytogenetics and Genome Analysis 4.2 Chromosome Abnormalities 4.3 Chromosome and Genome Analysis in Cancer CHAPTER 5 Chromosome Disease 5.1 Mechanisms of Abnormalities 5.2 Aneuploidy 5.3 Idiopathic Chromosome Abnormalities 5.4 The Sex Chromosomes and Their Abnormalities CHAPTER 6 Multiple-Factor Inheritance 6.1 Qualitative and Quantitative Traits 6.2 Familial Aggregation and Correlation 6.3 Determining the Relative Contributions of Genes and Environment to Complex Disease 6.4 Examples of Common Multifactorial Diseases With a Genetic Contribution 6.5 Examples of Multifactorial Traits for Which Specific Genetic and Environmental Factors are Known 6.6 The Challenge of Multifactorial Disease With Complex Inheritance CHAPTER 7 Epigenetics 7.1 Epigenetic and Epigenomic Aspects of Gene Expression 7.2 Gene Expression as the Integration of Genomic and Epigenomic Signals 7.3 Allelic Imbalance in Gene Expression 7.4 Variation in Gene Expression and Its Relevance to Medicine CHAPTER 8 Genetics of Cancer 8.1 Neoplasia 8.2 Genetic Basis of Cancer 8.3 Cancer in Families 8.4 Familial Occurrence of Cancer 8.5 Sporadic Cancer 8.6 Cytogenetic Changes in Cancer
8.7 Applying Genomics to Individualize Cancer Therapy CHAPTER 9 Genetic Variation in Individuals and Populations: Mutation and Polymorphism 9.1 The Nature of Genetic Variation 9.2 Inherited Variation and Polymorphism in DNA 9.3 The Origin and Frequency of Different Types of Mutations 9.4 Types of Mutations and Their Consequences 9.5 Variation in Individual Genomes 9.6 Impact of Mutation and Polymorphism 9.7 Genotypes and Phenotypes in Populations 9.8 Factors That Disturb Hardy-Weinberg Equilibrium CHAPTER 10 The Treatment of Genetic Disease 10.1 The Current State of Treatment of Genetic Disease 10.2 Special Considerations in Treating Genetic Disease 10.3 Treatment by the Manipulation of Metabolism 10.4 Treatment to Increase the Function of the Affected Gene or Protein 10.5 Gene Therapy 10.6 Precision Medicine : the Present and Future of the Treatment of Mendelian Disease CHAPTER 11 Genetic Counseling and Risk Assessment 11.1 Family History in Risk Assessment 11.2 Genetic Counseling in Clinical Practice 11.3 Determining Recurrence Risks 11.4 Empirical Recurrence Risks REFERENCES
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