Emery's Elements of Medical Genetics and Genomics
- 16th Edition - December 15, 2020
- Imprint: Elsevier
- Authors: Peter D Turnpenny, Sian Ellard, Ruth Cleaver
- Language: English
- Paperback ISBN:9 7 8 - 0 - 7 0 2 0 - 7 9 6 6 - 5
- eBook ISBN:9 7 8 - 0 - 7 0 2 0 - 7 9 6 7 - 2
Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in… Read more
Purchase options
Institutional subscription on ScienceDirect
Request a sales quoteLong recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge.
- Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review.
- Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics.
- Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics
- Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures.
- Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more.
- Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver.
- Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Medical Students
- Cover image
- Title page
- Table of Contents
- Copyright
- Preface
- Acknowledgments
- Dedication
- 1. The History and Impact of Genetics in Medicine
- Abstract
- Gregor Mendel and the Laws of Inheritance
- DNA as the Basis of Inheritance
- The Fruit Fly
- The Origins of Medical Genetics
- Major New Developments
- The Societal Impact of Advances in Genetics
- Databases
- Further Reading
- Section A: The Scientific Basis of Human Genetics
- 2. The Cellular and Molecular Basis of Inheritance
- Abstract
- The Cell
- DNA: The Hereditary Material
- Chromosome Structure
- Types of DNA Sequence
- Transcription
- Translation
- The Genetic Code
- Regulation of Gene Expression
- RNA-Directed DNA Synthesis
- Mutations
- Mutations and Mutagenesis
- Further Reading
- 3. Chromosomes and Cell Division
- Abstract
- Human Chromosomes
- Methods of Chromosome Analysis
- Molecular Cytogenetics
- Chromosome Nomenclature
- Cell Division
- Gametogenesis
- Chromosome Abnormalities
- Further Reading
- 4. Finding the Cause of Monogenic Disorders by Identifying Disease Genes
- Position-Independent Identification of Human Disease Genes
- Positional Cloning
- The Human Genome Project
- Identifying the Genetic Etiology of Monogenic Disorders by Next-Generation Sequencing
- Further Reading
- 5. Laboratory Techniques for Diagnosis of Monogenic Disorders
- Abstract
- Polymerase Chain Reaction
- Application of DNA Sequence Polymorphisms
- Nucleic Acid Hybridization Techniques
- Mutation Detection
- Sequencing-Based Methods
- Dosage Analysis
- Genome Sequencing as a Clinical Diagnostic Test
- Further Reading
- 6. Patterns of Inheritance
- Abstract
- Family Studies
- Mendelian Inheritance
- Multiple Alleles and Complex Traits
- Anticipation
- Mosaicism
- Uniparental Disomy
- Genomic Imprinting
- Mitochondrial Inheritance
- Further Reading
- 7. Population and Mathematical Genetics
- Abstract
- Allele Frequencies in Populations
- Genetic Polymorphism
- Segregation Analysis
- Genetic Linkage
- Medical and Societal Intervention
- Conclusion
- Further Reading
- 8. Risk Calculation
- Abstract
- Probability Theory
- Autosomal Dominant Inheritance
- Autosomal Recessive Inheritance
- X-Linked Recessive Inheritance
- The Use of Linked Markers
- Bayes’ Theorem and Prenatal Screening
- Empiric Risks
- Further Reading
- 9. Developmental Genetics
- Abstract
- Fertilization and Gastrulation
- Developmental Gene Families
- The Pharyngeal Arches
- The Role of Cilia in Developmental Abnormalities
- The Limb as a Developmental Model
- Developmental Genes and Cancer
- Positional Effects and Developmental Genes
- Hydatidiform Moles
- Epigenetics and Development
- Sex Determination and Disorders of Sex Development
- Twinning
- Further Reading
- Section B: Genetics in Medicine and Genomic Medicine
- 10. Common Disease, Polygenic, and Multifactorial Genetics
- Types and Mechanisms of Genetic Susceptibility
- Approaches to Demonstrating Genetic Susceptibility to Common Diseases
- Polygenic Inheritance and the Normal Distribution
- Multifactorial Inheritance—the Liability/Threshold Model
- Identifying Genes That Cause Multifactorial Disorders
- Polygenic Risk Scores
- Disease Models for Multifactorial Inheritance
- Further Reading
- 11. Screening for Genetic Disease
- Abstract
- Screening Those at High Risk
- Carrier Testing for Autosomal Recessive and X-Linked Disorders
- Presymptomatic Diagnosis of Autosomal Dominant Disorders
- Ethical Considerations in Carrier Detection and Predictive Testing
- Population Screening
- Criteria for a Screening Program
- Prenatal and Postnatal Screening
- Population Carrier Screening
- Genetic Registers
- Further Reading
- Websites
- 12. Hemoglobin and the Hemoglobinopathies
- Abstract
- Structure of Hemoglobin
- Developmental Expression of Hemoglobin
- Globin Chain Structure
- Synthesis and Control of Hemoglobin Expression
- Disorders of Hemoglobin
- Clinical Variation of the Hemoglobinopathies
- Antenatal and Newborn Hemoglobinopathy Screening
- Further Reading
- Websites
- 13. Immunogenetics
- Abstract
- Immunity
- Innate Immunity
- Specific Acquired Immunity
- Inherited Immunodeficiency Disorders
- Blood Groups
- Further Reading
- 14. The Genetics of Cancer…and Cancer Genetics
- Abstract
- Differentiation Between Genetic and Environmental Factors in Cancer
- Oncogenes
- Tumor Suppressor Genes
- Epigenetics and Cancer
- Genetics of Common Cancers
- DNA Tumor Profiling, Mutational Signatures, and Tumor Mutational Burden
- Inherited Cancer Syndromes
- Genetic Counseling in Familial Cancer
- Screening for Familial Cancer
- What Treatment Is Appropriate?
- Further Reading
- 15. Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease
- Pharmacogenomics
- Drug Metabolism
- Genetic Variations Revealed by the Effects of Drugs
- Precision Medicine
- Treatment of Genetic Disease
- Therapeutic Applications of Recombinant DNA Technology
- Gene Therapy
- RNA Modification
- Targeted Gene Correction
- Stem Cell Therapy
- Further Reading
- Section C: Clinical Genetics, Counseling, and Ethics
- 16. Congenital Abnormalities, Dysmorphic Syndromes, and Intellectual Disability
- Abstract
- Incidence
- Definition and Classification of Birth Defects
- Genetic Causes of Malformations
- Environmental Agents (Teratogens)
- Malformations of Unknown Cause
- Counseling
- Intellectual Disability
- Further Reading
- 17. Chromosome Disorders
- Abstract
- Incidence of Chromosome Abnormalities
- Disorders of the Sex Chromosomes
- “Classic” Chromosome Deletion Syndromes
- Chromosome Microarray/Microarray-Comparative Genomic Hybridization
- Chromosome Disorders and Behavioral Phenotypes
- Chromosome Breakage Syndromes
- Indications for Chromosome Microarray Analysis
- Further Reading
- 18. Inborn Errors of Metabolism
- Abstract
- Disorders of Amino Acid and Peptide Metabolism
- Disorders of Carbohydrate Metabolism
- Disorders of Steroid Metabolism
- Disorders of Lipid and Lipoprotein Metabolism
- Lysosomal Storage Disorders
- Disorders in the Metabolism of Purines, Pyrimidines, and Nucleotides
- Disorders of Porphyrin and Heme Metabolism
- Disorders in the Metabolism of Trace Elements and Metals
- Peroxisomal Disorders
- Disorders of Fatty Acid and Ketone Body Metabolism
- Disorders of Energy Metabolism
- Prenatal Diagnosis of Inborn Errors of Metabolism
- Further Reading
- 19. Mainstream Monogenic Disorders
- Abstract
- Neurological Disorders
- CADASIL and Early-Onset Dementia
- Inherited Peripheral Neuropathies
- Motor Neurone Disease
- Neurocutaneous Disorders
- Muscular Dystrophies
- Respiratory Disorders
- Inherited Cardiac Conditions
- Connective Tissue Disorders
- Renal Disorders
- Blood Disorders
- Further Reading
- 20. Prenatal Testing and Reproductive Genetics
- Abstract
- Techniques Used in Prenatal Diagnosis
- Antenatal and Prenatal Screening
- Indications for Prenatal Testing
- Special Problems in Prenatal Diagnosis
- Termination of Pregnancy
- Preimplantation Genetic Diagnosis
- Assisted Conception and Implications for Genetic Disease
- Prenatal Treatment
- Further Reading
- 21. Genetic Counseling
- Abstract
- Definition
- Establishing the Diagnosis
- Calculating and Presenting the Risk
- Discussing the Options
- Communication and Support
- Genetic Counseling—Directive or Non-directive?
- Outcomes in Genetic Counseling
- Special Issues in Genetic Counseling
- Further Reading
- 22. Ethical and Legal Issues in Medical Genetics
- Abstract
- General Principles
- Ethical Dilemmas in the Genetics Clinic
- Ethical Dilemmas and the Public Interest
- Conclusion
- Further Reading
- Glossary
- Appendix: Websites and Clinical Databases
- General Genetic Websites
- Human Genome Websites
- Molecular Genetics Websites
- Cytogenetics Websites
- Educational Human Genetics Websites
- Human Genetics Societies
- Clinical Databases
- Other Resources
- Multiple-Choice Questions
- CHAPTER 2: The Cellular and Molecular Basis of Inheritance
- CHAPTER 3: Chromosomes and Cell Division
- CHAPTER 4: Finding the Cause of Monogenic Disorders by Identifying Disease Genes
- CHAPTER 5: Laboratory Techniques for Diagnosis of Monogenic Disorders
- CHAPTER 6: Patterns of Inheritance
- CHAPTER 7: Population and Mathematical Genetics
- CHAPTER 8: Risk Calculation
- CHAPTER 9: Developmental Genetics
- CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
- CHAPTER 11: Screening for Genetic Disease
- CHAPTER 12: Hemoglobin and the Hemoglobinopathies
- CHAPTER 13: Immunogenetics
- CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
- CHAPTER 15: Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease
- CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
- CHAPTER 17: Chromosome Disorders
- CHAPTER 18: Inborn Errors of Metabolism
- CHAPTER 19: Mainstream Monogenic Disorders
- CHAPTER 20: Prenatal Testing and Reproductive Genetics
- CHAPTER 21: Genetic Counseling
- Case-Based Questions
- CHAPTER 6: Patterns of Inheritance
- CHAPTER 7: Population and Mathematical Genetics
- CHAPTER 8: Risk Calculation
- CHAPTER 9: Developmental Genetics
- CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
- CHAPTER 11: Screening for Genetic Disease
- CHAPTER 12: Hemoglobin and the Hemoglobinopathies
- CHAPTER 13: Immunogenetics
- CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
- CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
- CHAPTER 17: Chromosome Disorders
- CHAPTER 18: Inborn Errors of Metabolism
- CHAPTER 19: Mainstream Monogenic Disorders
- CHAPTER 20: Prenatal Testing and Reproductive Genetics
- CHAPTER 21: Genetic Counseling
- Multiple-Choice Answers
- CHAPTER 2: The Cellular and Molecular Basis of Inheritance
- CHAPTER 3: Chromosomes and Cell Division
- CHAPTER 4: Finding the Cause of Monogenic Disorders by Identifying Disease Genes
- CHAPTER 5: Laboratory Techniques for Diagnosis of Monogenic Disorders
- CHAPTER 6: Patterns of Inheritance
- CHAPTER 7: Population and Mathematical Genetics
- CHAPTER 8: Risk Calculation
- CHAPTER 9: Developmental Genetics
- CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
- CHAPTER 11: Screening for Genetic Disease
- CHAPTER 12: Hemoglobin and the Hemoglobinopathies
- CHAPTER 13: Immunogenetics
- CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
- CHAPTER 15: Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease
- CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
- CHAPTER 17: Chromosome Disorders
- CHAPTER 18: Inborn Errors of Metabolism
- CHAPTER 19: Mainstream Monogenic Disorders
- CHAPTER 20: Prenatal Testing and Reproductive Genetics
- CHAPTER 21: Genetic Counseling
- Case-Based Answers and Discussion
- CHAPTER 6: Patterns of Inheritance
- CHAPTER 7: Population and Mathematical Genetics
- CHAPTER 8: Risk Calculation
- CHAPTER 9: Developmental Genetics
- CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics
- CHAPTER 11: Screening for Genetic Disease
- CHAPTER 12: Hemoglobin and the Hemoglobinopathies
- CHAPTER 13: Immunogenetics
- CHAPTER 14: The Genetics of Cancer … and Cancer Genetics
- CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability
- CHAPTER 17: Chromosome Disorders
- CHAPTER 18: Inborn Errors of Metabolism
- CHAPTER 19: Mainstream Monogenic Disorders
- CHAPTER 20: Prenatal Testing and Reproductive Genetics
- CHAPTER 21: Genetic Counseling
- Clinical Scenario Answers and Discussion
- Chapter 6
- Chapter 8
- Chapter 9
- Chapter 11
- Chapter 12
- Chapter 13
- Chapter 14
- Chapter 16
- Chapter 17
- Chapter 18
- Chapter 19
- Chapter 20
- Chapter 21
- Chapter 22
- Index
- Edition: 16
- Published: December 15, 2020
- Imprint: Elsevier
- No. of pages: 448
- Language: English
- Paperback ISBN: 9780702079665
- eBook ISBN: 9780702079672
PT
Peter D Turnpenny
Affiliations and expertise
Consultant Clinical Geneticist, Royal Devon and Exeter Hospital
Senior Clinical Lecturer, Peninsula Medical School, Exeter, UKSE
Sian Ellard
Affiliations and expertise
Consultant Clinical Molecular Geneticist, Royal Devon and Exeter Hospital
Professor of Human Molecular Genetics, Peninsula Medical School, Exeter, UKRC
Ruth Cleaver
Affiliations and expertise
Clinical Genetics
Royal Devon and Exeter NHS Foundation Trust
Exeter, United Kingdom