Essentials of Medical Genetics for Nursing and Health Professionals

Table of contents

Table of contents :
ESSENTIALS OF MEDICAL GENETICS for Nursing and Health Professionals
Title Page
Copyright
DEDICATION
SPECIAL ACKNOWLEDGMENTS
CONTENTS
PREFACE
CONTRIBUTORS
REVIEWERS
CHAPTER 1 Introduction
Basic Genetics
Mutation
Nondisjunction Syndromes
Genes in Individuals
Inheritance Patterns
Human Genome Project
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 2 Diagnostic Techniques in Medical Genetics
Family History
Pedigree Analysis
Cytogenetic Studies
Fluorescence in Situ Hybridization
DNA Analysis
Biochemical Analysis
Ethical Issues with Genetic Testing
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 3 Prenatal Genetics
Overview
Prenatal Screening
Prenatal Diagnostic Testing
What Can Be Done with the Sample?
Known Mutation Analysis
Carrier Screening
In-Vitro Fertilization with Preimplantation Genetic Diagnosis and Preimplantation Genetic Screening
Family History
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 4 Development and Teratogenesis
Embryonic Development
Implantation
Congenital Abnormalities
Thalidomide
TORCH Complex
Fetal Alcohol Syndrome
Tobacco
Cocaine
Vitamin A
Diethylstilbestrol
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 5 Genetic Counseling
Definition and History of Genetic Counseling
Essentials of Genetic Counseling
Impact of Advances in Genetics/Genomics on Genetic Counseling
Genetic Counseling Practice Areas
Referral and Access to Genetic Counselors
Conclusion
Genetic Counseling Resources
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 6 Neurodegenerative Diseases
Alzheimer’s Disease
Huntington’s Disease
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 7 Hereditary Breast and Ovarian Cancer Syndrome
Breast Cancer Genes
Founder Effect
Penetrance
Other Syndromes Associated with Breast and Ovarian Cancer
Management Options
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 8 Colorectal Cancer
Familial Colorectal Cancer
Hereditary Colorectal Cancer
Familial Adenomatous Polyposis
Hereditary Nonpolyposis Colorectal Cancer
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 9 Chronic Myelogenous Leukemia
Major Phenotypic Features
Genetics of Chronic Myelogenous Leukemia
Phases of Chronic Myelogenous Leukemia
Treatment
Prognosis
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 10 Hemophilia
Genetics of Hemophilia
Diagnosis
Genetic Testing and Counseling
Management and Treatment
Blood Product Transfusions
Associated Syndromes
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 11 Sickle Cell Disease
Epidemiology
Phenotypic Features
Clinical Diagnosis and Testing
Other Sickle Cell Disorders
Management and Treatment
Genetic Counseling
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 12 Hemochromatosis
Phenotypic Features
Genetics of HFE-Associated Hemochromatosis
Diagnosis
Genetic Testing and Counseling
Management and Treatment
Associated Syndromes
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 13 Cystic Fibrosis
Phenotypic Features
Genetics
Diagnosis
Genetic Testing and Counseling
Management, Treatment, and Surveillance
Associated Syndromes
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 14 Osteogenesis Imperfecta
Diagnosis
Genetic Testing and Counseling
Management and Treatment
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 15 Muscular Dystrophies
Overview
Diagnosis
Genetic Testing and Counseling
Associated Syndromes
Management and Treatment
Prognosis
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 16 Familial Thoracic Aortic Aneurysms and Dissections
Diagnosis
Genetic Testing and Counseling
Management and Treatment
Associated Syndromes
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 17 Familial Hypercholesterolemia
Genetics
Environmental Risk Factors
Physical Examination Findings
Related Disorders
Environmental and Other Factors
Testing
Management and Surveillance
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 18 Hereditary Cardiomyopathies
Diagnosis
Genetic Testing and Counseling
Management and Treatment
Associated Syndromes
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 19 Marfan Syndrome
Phenotypic Features
Genetics of Marfan Syndrome
Diagnosis
Genetic Testing and Counseling
Management and Treatment
Associated Syndromes
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 20 Polycystic Kidney Disease
Phenotypic Features
Genetics
Diagnosis
Genetic Testing and Counseling
Management, Treatment, and Surveillance
Associated Syndromes
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 21 Rheumatologic Disorders
Introduction
Skeletal Dysplasias
Metabolic Bone Disorders
Arthritides
Systemic Lupus Erythematosus
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 22 Neurofibromatosis
Genetics of Neurofibromatosis
Diagnosis
Medical Management
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 23 Familial Malignant Melanoma
Risk Factors for Malignant Melanoma
Associated Diseases
Diagnosis
Management and Treatment
Genetic Testing, Counseling, and Surveillance
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 24 Behavioral Medicine
Diagnosis
Genetic Testing and Counseling
Management and Treatment
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 25 Pharmacogenomics
Drug Metabolism
Pharmacogenomic Tests
Limitations and Ethical Issues
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 26 Gene Therapy
Basic Process
Types of Gene Therapy
Viruses as Gene Therapy Vectors
Challenges Associated with Viral Vectors
Recent Progress
Chapter Summary
Chapter Review Questions
Bibliography
CHAPTER 27 Ethical, Legal, and Social Issues
Genetic Testing
Confidentiality
Conclusion
Chapter Summary
Chapter Review Questions
Bibliography
GLOSSARY
INDEX