Efnisyfirlit

• Cover image
• Title page
• Table of Contents
• Any screen, Any time, Anywhere
• Copyright
• Chapter Contributors
• Case Study Contributors
• Preface
• Clinical Cases
  • Case 1
  • Case 2
  • Case 3
  • Case 4
  • Case 5
  • Case 6
  • Case 7
  • Case 8
  • Case 9
  • Case 10
  • Case 11
  • Case 12
  • Case 13
  • Case 14
  • Case 15
  • Case 16
  • Case 17
  • Case 18
  • Case 19
  • Case 20
  • Case 21
  • Case 22
  • Case 23
  • Case 24
  • Case 25
  • Case 26
  • Case 27
  • Case 28
  • Case 29
  • Case 30
  • Case 31
  • Case 32
  • Case 33
  • Case 34
  • Case 35
  • Case 36
  • Case 37
  • Case 38
  • Case 39
  • Case 40
  • Case 41
  • Case 42
  • Case 43
  • Case 44
  • Case 45
  • Case 46
  • Case 47
  • Case 48
  • Case 49
• Abbreviations
• Chapter 1. Introduction
  • Abstract
  • The Birth and Development of Genetics and Genomics
  • Genetics and Genomics in Medicine
  • Evolution of Genetics in Medicine
• Chapter 2. Introduction to the Human Genome
  • Abstract
  • The Human Genome and the Chromosomal Basis of Heredity
  • Variation in the Human Genome
  • Transmission of the Genome
  • Human Gametogenesis and Fertilization
  • Medical Relevance of Mitosis and Meiosis
  • General References
  • References for Specific Topics
• Chapter 3. The Human Genome: Gene Structure and Function
  • Abstract
  • Information Content of the Human Genome
  • The Central Dogma: Dna → Rna → Protein
  • Gene Organization and Structure
  • Fundamentals of Gene Expression
  • Gene Expression in Action
  • Epigenetic and Epigenomic Aspects of Gene Expression
  • Gene Expression as the Integration of Genomic and Epigenomic Signals
  • Allelic Imbalance in Gene Expression
  • Variation in Gene Expression and its Relevance to Medicine
  • General References
  • References for Specific Topics
• Chapter 4. Human Genetic Diversity: Human Genetic Diversity: Genomic Variation
  • Abstract
  • The Nature of Genetic Variation
  • Inherited Common Variation in Dna
  • The Origin and Frequency of Different Types of Mutation
  • Types of Mutation and Their Consequences
  • Variation in Individual Genomes
  • Impact of Genomic Variation
  • General References
  • References for Specific Topics
• Chapter 5. Principles of Clinical Cytogenetics and Genome Analysis
  • Abstract
  • Introduction to Cytogenetics and Genome Analysis
  • Chromosome Abnormalities
  • Chromosome and Genome Analysis in Cancer
  • Acknowledgment
  • General References
  • References for Specific Topics
• Chapter 6. The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes
  • Abstract
  • Mechanisms of Abnormalities
  • Whole Chromosome Aneuploidy
  • Uniparental Disomy
  • Structural Variants and Clinical Impact
  • The Impact of Genetic Diversity
  • Segmental Duplications, Copy Number Variants, and Nonallelic Homologous Recombination
  • The Impact of Inversions in Genomic Disorders
  • Deletion and Duplication Syndromes
  • Recurrent Structural variants
  • Nonrecurrent Structural Variants
  • Nonrecurrent Chromosome Abnormalities
  • Segregation of Familial Abnormalities
  • Neurodevelopmental Disorders and Intellectual Disability
  • Disorders Associated with Genomic Imprinting
  • The Sex Chromosomes and their Abnormalities
  • Databases of Genomic Variants
  • General References
  • References for Specific Topics
• Chapter 7. Patterns of Single-Gene Inheritance
  • Abstract
  • Overview and Concepts
  • Pedigrees
  • Patterns of Inheritance
  • Autosomal Patterns of Mendelian Inheritance
  • Characteristics of Autosomal Recessive Inheritance
  • X-linked Inheritance
  • Pseudoautosomal Inheritance
  • Mosaicism
  • Parent-of-origin Effects on Inheritance Patterns
  • Dynamic Mutations: Unstable Repeat Expansions
  • Maternal Inheritance of Disorders Caused by Variants in the Mitochondrial Genome
  • Correlating Genotype And Phenotype
  • Importance of The Family History in Medical Practice
  • Acknowledgment
  • General References
• Chapter 8. Principles of Clinical Epigenetics
  • Abstract
  • Introduction
  • Epigenetic Machinery
  • Epigenetics in Development
  • The Environment Interacts with the Epigenome
  • The Role of Epigenetics in Human Disease
  • Categories Of Epigenetic Disorders
  • Diagnostic Testing for Epigenetic Disorders
  • Dna Methylation and Cancer Diagnostics
  • Treatment for Neurodevelopmental Disorders Caused by Pathogenic Variants in Epigenetic Regulators
  • Future Directions
  • General References
  • Specific References
• Chapter 9. Complex Inheritance of Common Multifactorial Disorders
  • Abstract
  • Qualitative and Quantitative Traits
  • Familial Aggregation and Correlation
  • Determining the Relative Contributions of Genes and Environment to Complex Disease
  • Examples of Common Multifactorial Diseases with a Genetic Contribution
  • Examples Of Multifactorial Traits For Which Specific Genetic And Environmental Factors are Known
  • The Challenge of Multifactorial Disease with Complex Inheritance
  • General References
  • References for Specific Topics
• Chapter 10. Population Genetics for Genomic Medicine
  • Introduction to Population Genetics for Genomic Medicine
  • Human Origins and Founder Effects of Serial Migration
  • Defining Human Populations to Characterize Diversity
  • Allele and Genotype Frequencies
  • Genomic Variation and Biases in Population Datasets
  • Acknowledgment
  • General References
  • References For Specific Topics
• Chapter 11. Identifying the Genetic Basis for Human Disease
  • Genetic Basis for Linkage Analysis and Association
  • Strategies for Discovery of Disease-Associated Genes
  • Mapping Human Disease Genes by Linkage Analysis
  • Finding Genes Responsible for Disease by Genome-Wide Sequencing
  • Filtering Strategies for Identification of Disease-Causing Genes
  • General References
  • References for Specific Topics
• Chapter 12. The Molecular Basis of Genetic Disease
  • Abstract
  • General Principles and Lessons from the Hemoglobinopathies
  • Effect of Pathogenic Variants on Protein Function
  • How Variants Disrupt the Formation of Biologically Normal Proteins
  • The Relationship between Genotype and Phenotype in Genetic Disease
  • Human Hemoglobin and Associated Diseases
  • The Hemoglobinopathies
  • General References
  • References for Specific Topics
• Chapter 13. The Molecular, Biochemical, and Cellular Basis of Genetic Disease
  • Abstract
  • Diseases Due to Pathogenic Variants in Different Classes of Proteins
  • Diseases Involving Enzymes
  • Altered Protein Function due to Abnormal Posttranslational Modification
  • Defects in Receptor Proteins
  • Transport Defects
  • Disorders of Structural Proteins
  • The Effect of Gene Duplication and Retained Function on Phenotype: Spinal Muscular Atrophy
  • Neurodegenerative Disorders
  • General References
  • References to Specific Topics
  • Useful Websites
• Chapter 14. The Treatment of Genetic Disease
  • Abstract
  • The Current State of Treatment of Genetic Disease
  • Special Considerations in Treating Genetic Disease
  • Treatment by the Manipulation of Metabolism
  • Treatment to Increase the Function of the Affected Gene or Protein
  • Gene Therapy
  • Precision Medicine: The Present and Future of the Treatment of Mendelian Disease
  • General References
  • References for Specific Topics
  • Useful Websites
• Chapter 15. Developmental Genetics and Birth Defects
  • Developmental Biology in Medicine
  • Introduction to Developmental Biology
  • Genes and Environment in Development
  • Basic Concepts of Developmental Biology
  • Cellular and Molecular Mechanisms in Development
  • Interaction of Developmental Mechanisms in Embryogenesis
  • Concluding Comments
  • General References
  • References Specific to Particular Topics
• Chapter 16. Cancer Genetics and Genomics
  • Abstract
  • Germline Versus Somatic
  • Neoplasia
  • Genetic Basis of Cancer
  • Cancer in Families
  • Familial Occurrence of Cancer
  • Sporadic Cancer
  • Cytogenetic Changes in Cancer
  • The Role of Epigenetics in Cancer
  • Applying Genomics to Individualize Cancer Therapy
  • Cancer and the Environment
  • Acknowledgment
  • General References
  • Specific References
  • Useful Websites
• Chapter 17. Genetic Counseling and Risk Assessment
  • Abstract
  • Genetic Counseling
  • Clinical Genetics
  • Risk Assessment
  • Family History Risk Assessment
  • Risk Communication and Perception
  • Determining Recurrence Risks
  • General Principles of Risk Estimation
  • Empirical Recurrence Risks
  • Reproductive Options
  • Genetic Counseling in the Era of Genomic Medicine
  • General References
  • References for Specific Topics
• Chapter 18. Preconception and Prenatal Screening and Diagnosis
  • Abstract
  • Prenatal Screening Methods
  • Prenatal Diagnostic Procedures
  • Laboratory Studies
  • Preconception Genetic Screening and Testing
  • Fetal Surgical and Medical Interventions
  • Genetic Counseling for Preconception and Prenatal Diagnosis and Screening
  • General References
  • Specific References
• Chapter 19. Application of Genomics to Medicine and Individualized Health Care
  • Abstract
  • Genetic Screening in Populations
  • Pharmacogenomics
  • Pharmacogenomics as a Complex Trait
  • Screening for Genetic Susceptibility to Disease
  • Individualized Genomic Medicine
  • Precision Child Health
  • General References
  • References for Specific Topics
• Chapter 20. Ethical and Social Issues in Genetics and Genomics
  • Abstract
  • Principles of Biomedical Ethics
  • Ethical Dilemmas Arising in Medical Genetics
  • Privacy of Genetic Information
  • Artificial Intelligence and Increased Digitization
  • Use of Genetic Information by Employers and Insurers
  • Eugenic and Dysgenic Effects of Medical Genetics
  • Genetics and Genomics in Medicine
  • Acknowledgments
  • General References
  • References for Specific Topics
• Clinical Case Studies Illustrating Genetic Principles
  • Case Presentations
  • 1. Abacavir-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (MIM 608579) (Genetically Determined Immunological Adverse Drug Reaction)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 2. Achondroplasia (MIM 100800) (FGFR3 Pathogenic Variant)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 3. Age-Related Macular Degeneration (MIM 603075) (Complement Factor H Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Examination
    • Background
    • Questions for Small Group Discussion
    • References
  • 4. Alzheimer Disease (MIM 104300)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 5. 16p11.2 Deletion Syndrome (MIM 611913)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 6. Beckwith-Wiedemann Syndrome (MIM 130650) (Uniparental Disomy and Imprinting Defect)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 7. Hereditary Breast and Ovarian Cancer (MIM 604370, 612555) (BRCA1 and BRCA2 Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 8. Charcot-Marie-Tooth Disease Type 1 A (MIM 118220) (PMP22 Sequence Variant or Duplication)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 9. CHARGE Syndrome (MIM 214800) (CHD7 Disorder)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Inheritance
    • Questions for Small Group Discussion
  • 10. Chronic Myelogenous Leukemia (MIM 608232) (BCR-ABL1 Oncogene)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 11. Inflammatory Bowel Disease (MIM 266600)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • Key References
  • 12. Cystic Fibrosis (MIM 219700) (CFTR Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 13. Hearing Loss (NonSyndromic) (MIM 220290) (GJB2 Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 14. Duchenne Muscular Dystrophy (MIM 310200) (Dystrophin [DMD] Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 15. Monogenic Diabetes (MIM 600496) (Single Gene Pathogenic Variants Impacting Pancreatic Islet β Cell Development and/or Function)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 16. Familial Hypercholesterolemia (MIM 143890) (Low-Density Lipoprotein Receptor [LDLR] Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 17. Fragile X Syndrome (MIM 300624), Fragile X–Associated Tremor/Ataxia Syndrome (FXTAS) (MIM 300623), and Fragile X–Associated Primary Ovarian Insufficiency (FXPOI) (MIM 311360) (Pathogenic FMR1 Repeat Expansion)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 18. GAUCHER DISEASE Type I (Non-Neuronopathic) (MIM 230800) (GBA Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • Case Presentation
    • Background
    • Questions for Small Group Discussion
    • References
  • 19. Glucose-6-Phosphate Dehydrogenase Deficiency (MIM 300908) (G6PD Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 20. Hereditary Hemochromatosis (MIM 235200) (HFE Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 21. Hemophilia (MIM 306700 and MIM 306900) (F8 or F9 Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 22. 22q11.2 Deletion Syndrome (MIM 188400 DiGeorge Syndrome or MIM 192430 Velocardiofacial Syndrome)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 23. Holoprosencephaly (Nonsyndromic Form) (MIM 142945) (Sonic Hedgehog [SHH] variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 24. Huntington Disease (MIM 143100) (HTT Pathogenic Variant [CAG Expansion])
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 25. Hypertrophic Cardiomyopathy (MIM 192600) (Cardiac Sarcomere Gene Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 26. Proteus Syndrome (MIM 176920) (AKT1 Gene de novo Mosaic Variant)
    • Principles
    • Major Phenotypic Findings
    • History and Physical Findings
    • Questions for Small Group Discussion
    • References
  • 27. Fetal Growth Restriction (Abnormal Fetal Karyotype)
    • Principles
    • Major Phenotypic Features
    • Case Description
    • Background
    • Questions for Small Group Discussion
    • References
  • 28. Long QT Syndrome (MIM 192500) (Cardiac Ion Channel Gene)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 29. Lynch Syndrome (MIM 120435) (DNA Mismatch Repair Genes Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Questions for Small Group Discussion
    • References
  • 30. Marfan Syndrome (MIM 154700) (FBN1 Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • Case Presentation
    • Background
    • Questions for Small Group Discussion
    • References
  • 31. Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MIM 201450) (ACADM Pathogenic Variation)
    • Principles
    • Major Phenotypic Features
    • Case Report
    • Background
    • Questions for Small Group Discussion
    • References
  • 32. Miller-Dieker Syndrome (MIM 247200) (17p13.3 Heterozygous Deletion)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Management
    • Questions for Small Group Discussion
    • References
  • 33. Myoclonic Epilepsy With Ragged-Red Fibers (MIM 545000) (Mitochondrial tRNAlys Variant)
    • Principles
    • Major Phenotypic Features
    • Case Report
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 34. Neurofibromatosis 1 (MIM 162200) (NF1 Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 35. Roifman Syndrome (MIM 616651) RNU4ATAC Noncoding RNA Gene Pathogenic Variants
    • Principles
    • Major Phenotypic Findings
    • History and Physical Findings
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 36. Ornithine Transcarbamylase Deficiency (MIM 311250) (OTC Pathogenic Variant)
    • Principles
    • Major Phenotypic Findings
    • History and Physical Findings
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • Reference
  • 37. Polycystic Kidney Disease (MIM 173900 and MIM 613095) (PKD1 or PKD2 Pathogenic Variants)
    • Principles
    • Major Phenotypic Findings
    • Case Example
    • Background
    • Phenotype and Natural History
    • Management
    • Indications for Adpkd Molecular Testing
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 38. Prader-Willi Syndrome (MIM 176270) (Absence of Paternally Derived 15q11-q13)
    • Principles
    • Major Phenotypic Findings
    • History and Physical Findings
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 39. Retinoblastoma (MIM 180200) (RB1 Pathogenic Variants)
    • Principles
    • Major Phenotypic Findings
    • History and Physical Findings
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 40. Rett Syndrome (MIM 312750) (MECP2 Variants)
    • Principles
    • Major Phenotypic Findings
    • History and Physical Findings
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 41. Noonan Syndrome (RASopathies) (MIM 163950)
    • Principles
    • Major Phenotypic Findings
    • History and Physical Findings
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 42. Sickle Cell Disease (MIM 603903)
    • Principles
    • Major Phenotypic Findings
    • Case Report
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 43. Tay-TAY-Sachs Disease (MIM 272800) (HEXA Pathogenic Variants)
    • Principles
    • Major Phenotypic Findings
    • Case Report
    • Background
    • Phenotype and Natural History
    • Diagnosis and Management
    • Carrier Screening
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 44. α-Thalassemia (α-Globin Deficiency) (MIM 604131)
    • Principles
    • Major Phenotypic Findings
    • Case Report
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • Reference
  • 45. Thiopurine S-Methyltransferase Deficiency (MIM 610460) (TPMT Variants)
    • Principles
    • Major Phenotypic Findings
    • History and Physical Findings
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 46. Thrombophilia (MIM 188055 and 176860) (FV and PROC Pathogenic Variants)
    • Principles
    • Major Phenotypic Findings
    • History and Physical Findings
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 47. Turner Syndrome (Female Monosomy X) Chromosomal
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 48. Xeroderma Pigmentosum (MIM 278700) (Defect of Nucleotide Excision Repair, XPA Pathogenic Variants)
    • Principles
    • Major Phenotypic Findings
    • History and Physical Findings
    • Background
    • Phenotype and Natural History
    • Management
    • Inheritance
    • Questions for Small Group Discussion
    • References
  • 49. Telomere-Related Pulmonary Fibrosis and/or Bone Marrow Failure (MIM 614742) (TERT Pathogenic Variants)
    • Principles
    • Major Phenotypic Features
    • History and Physical Findings
    • Background
    • Inheritance
    • Questions for Small Group Discussion
    • References
• Glossary
• Answers to Problems
  • Chapter 2 Ada Hamosh and Stephen W. Scherer
  • Chapter 3 Stephen W. Scherer
  • Chapter 4 Stephen W. Scherer and Ada Hamosh
  • Chapter 5 Dimitri J. Stavropoulos
  • Chapter 6 Feyza Yilmaz, Christine R. Beck, Charles Lee
  • Chapter 7 Neal Sondheimer
  • Chapter 8 Sarah Goodman, Cheryl Cytrynbaum, Rosanna Weksberg
  • Chapter 9 Cristen J. Willer and Gonçalo R. Abecasisa
  • Chapter 10 Alice B. Popejoy
  • Chapter 11 Christian R. Marshall
  • Chapter 12 Gregory Costain
  • Chapter 13 Ada Hamosh
  • Chapter 14 Ronald Doron Cohn and Ada Hamosh
  • Chapter 15 Anthony Wynshaw-Boris and Ophir Klein
  • Chapter 16 Michael F. Walsh
  • Chapter 17 Carolyn Dinsmore Applegate and Jodie Marie Vento
  • Chapter 18 Angie Child Jelin and Ignatia B. Van den Veyver
  • Chapter 19 Ronald Doran Cohn and Iris Cohn
  • Chapter 20 Bartha Maria Knoppers and Ma’n H. Zawati
• Index
• Confidence is ClinicalKey

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