Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Developmental Disorders
- 7th Edition - October 22, 2024
- Editors: Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody
- Language: English
- Hardback ISBN:9 7 8 - 0 - 1 2 - 8 1 5 2 3 4 - 8
- eBook ISBN:9 7 8 - 0 - 1 2 - 8 1 5 2 3 5 - 5
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into m… Read more
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Request a sales quoteFor decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly.
In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye.
With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.
- Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics
- Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision
- Includes color images supporting identification, concept illustration, and method processing
- Features contributions by leading international researchers and practitioners of medical genetics
Students, physicians, and researchers in the field of medical genetics and personalized medicine, medical practitioners and researchers specializing in developmental disorders, molecular medicine, and cytogenetics, as well as genetic diagnostics and therapy in these and related disciplines, genetic counselors, practitioners in newborn medicine and developmental pediatrics
- Title of Book
- Cover image
- Title page
- Table of Contents
- Copyright
- List of Contributors
- Preface To The Seventh Edition Of Emery And Rimoin'S Principles And Practice Of Medical Genetics And Genomics
- Preface to Developmental Disorders
- CHAPTER 1. Human Developmental Genetics
- Abstract
- 1.1 Introduction and Overview
- 1.2 Timing of Normal Human Development
- 1.3 The Concept of Developmental Fields and Field Defects
- 1.4 Cellular Signaling in Development: The Concepts of Induction and Competence
- 1.5 A Limited Repertoire of Developmental Genes and Pathways
- 1.6 Developmental Gene Pathways and Families
- 1.7 Steps and Concepts in Embryonic Development
- 1.8 Organogenesis
- 1.9 Conclusion
- References
- Chapter 2. Clefting, Dental, and Craniofacial Syndromes
- Abstract
- 2.1 Introduction
- 2.2 Development
- 2.3 Epidemiology of Clefts
- 2.4 Genetics
- 2.5 Clinical Exam and Physical Findings
- 2.6 Conclusion
- References
- Chapter 3. Craniosynostosis
- Abstract
- 3.1 Introduction
- 3.2 Syndromic Craniosynostosis
- 3.3 Nonsyndromic Craniosynostosis
- Acknowledgments
- References
- Chapter 4. Autosomal Trisomies
- Abstract
- 4.1 Introduction
- 4.2 Genetic Counseling In The Trisomies
- 4.3 Down Syndrome (Trisomy 21)
- 4.4 Trisomy 18
- 4.5 Trisomy 13
- References
- Chapter 5. Sex-Chromosome Abnormalities
- Abstract
- 5.1 Introduction
- 5.2 The Epidemiology of Sex-Chromosome Abnormalities
- 5.3 Turner Syndrome
- 5.4 Klinefelter Syndrome
- 5.5 47,XXX Syndrome
- 5.6 X Chromosome Mosaicism
- 5.7 Sex Chromosome Tetrasomy and Pentasomy (Polysomy)
- 5.8 47,XYY Karyotype
- 5.9 Structural Abnormalities of the Y Chromosome
- 5.10 Prenatal Diagnosis of Sex-Chromosome Abnormalities
- References
- Chapter 6. Deletions and Other Structural Abnormalities of the Autosomes
- Abstract
- 6.1 Introduction
- 6.2 Translocations
- 6.3 Uniparental Disomy
- 6.4 Deletion
- 6.5 Duplication
- Cross-references
- References
- Chapter 7. Hereditary Hearing Impairment
- Abstract
- 7.1 Introduction
- 7.2 Anatomy And Physiology
- 7.3 Prevalence And Classification Of Hearing Loss
- 7.4 Acquired Hearing Impairment
- 7.5 Teratogenic Hearing Impairment
- 7.6 Nonsyndromic Hereditary Hearing Impairment
- 7.7 Syndromic Hereditary Hearing Impairment
- 7.8 Inborn Metabolic Errors
- 7.9 Diagnosis And Differential Diagnosis
- Acknowledgments
- References
- Further reading
- Chapter 8. Color Vision Defects
- Abstract
- 8.1 Introduction
- 8.2 Photoreceptors
- 8.3 Photopigments of Human Color Vision and the Genes That Encode Them
- 8.4 Red–Green Color Vision and the X-Chromosome Opsin Gene Locus
- 8.5 Achromatopsias
- 8.6 Gene Therapy for Color Vision Defects
- Acknowledgments
- References
- CHAPTER 9. Optic Atrophy
- Abstract
- 9.1 Introduction
- 9.2 “Primary” Optic Atrophies
- 9.3 Complex Optic Atrophies
- References
- Chapter 10. Glaucoma
- Abstract
- 10.1 Introduction
- 10.2 Clinical Features Of Heritable Forms Of Glaucoma
- 10.3 Genes Causing Childhood And Early-Onset Glaucoma
- 10.4 Genome-Wide Association Studies For Adult-Onset Forms Of Glaucoma With Complex Inheritance
- 10.5 Conclusion
- References
- Chapter 11. Genetic disorders of the cornea
- Abstract
- Glossary
- 11.1 Introduction
- 11.2 Dystrophies
- 11.3 Defects Associated With Systemic Disease
- 11.4 Other Inherited Corneal Abnormalities
- 11.5 Conclusion
- References
- CHAPTER 12. Inherited Cataracts and Other Genetic Disorders of the Lens
- Abstract
- Glossary
- 12.1 Introduction
- 12.2 Lens Development And Morphology
- 12.3 Clinical Features And Classification Of Inherited Cataracts
- 12.4 Molecular Genetics Of Mendelian Cataracts
- 12.5 Mechanisms Of Mendelian Congenital Cataract
- 12.6 Molecular Genetics Of Syndromic Cataracts
- 12.7 Other Lens Disorders
- 12.8 Diagnosis And Treatment
- References
- Chapter 13. Inherited retinal and choroidal dystrophies
- Abstract
- 13.1 Introduction
- 13.2 Inheritance Patterns And Molecular Genetics
- 13.3 Pigmentary Retinopathies/Retinitis Pigmentosa
- 13.4 The Primary Pigmentary Retinopathies
- 13.5 Leber’s Congenital Amaurosis
- 13.6 The Primary Cone Degenerations
- 13.7 Achromatopsia
- 13.8 Blue Cone Monochromatism
- 13.9 Fleck Retina Diseases (Fundus Flavimaculatus, Fundus Albipunctatus, Retinitis Punctata Albescens, And Familial Drusen)
- 13.10 Stargardt’s Disease
- 13.11 Familial Drusen (Doyne Honeycomb Retinal Dystrophy, Malattia Leventinese)
- 13.12 Retinitis Punctata Albescens And Fundus Albipunctatus
- 13.13 Vitelliform Macular Dystrophy (Best Disease)
- 13.14 Albinism
- 13.15 Treatment And Management Of Retinal Dystrophies
- Resources
- Cross References
- References
- CHAPTER 14. Genetics of Strabismus
- Abstract
- 14.1 Introduction
- 14.2 Prevalence and Pathophysiology
- 14.3 Clinical Background
- 14.4 Isolated Common Strabismus
- 14.5 Single Gene Defect Disorders
- 14.6 Complex Strabismus/Syndromic Strabismus
- 14.7 Strabismus Associated with Other Ocular Disease
- 14.8 Strabismus Associated with Multisystem Disease
- Summary
- References
- Chapter 15. Anophthalmia, Microphthalmia, and Uveal Coloboma
- Abstract
- Glossary
- 15.1 Introduction
- 15.2 Anophthalmia
- 15.3 Microphthalmia
- 15.4 Genes And Syndromes Associated With Anophthalmia, Microphthalmia, And/Or Uveal Coloboma
- 15.5 A Clinical Approach To The Patient With Amc
- 15.6 Persistence Of The Fetal Vasculature/Persistent Hyperplastic Primary Vitreous
- Relevant Websites
- References
- Further reading
- Index
- No. of pages: 544
- Language: English
- Edition: 7
- Published: October 22, 2024
- Imprint: Academic Press
- Hardback ISBN: 9780128152348
- eBook ISBN: 9780128152355
RP
Reed E. Pyeritz
BK
Bruce R. Korf
WG