Essentials of Medical Genetics for Health Professionals (Gunder, Essentials of Medical Genetics for Health Professionals)

Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge. This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed. Complete with stated objectives, definition of key terms, references, chapter summaries and end of chapter review questions with answers, each chapter is organized for optimal learning. Instructor Resources include PowerPoint Slides, a TestBank, and an Image Bank. Essentials of Medical Genetics for Health Professionals will not only have application in the classroom setting for health professions or medical students, but practicing clinicians such as physician assistants, nurse practitioners, and physicians who want to learn more or revisit genetics will also find this book a valuable, useful resource. Cover Page 1 Title Page 2 ISBN 9780763759605 3 Contents 6 Preface 12 Chapter 1 Introduction 14 Basic Genetics 14 Mutation 16 Nondisjunction Syndromes 18 Genes in Individuals 21 Inheritance Patterns 22 Human Genome Project 28 Chapter Summary 29 Key Terms 30 Chapter Review Questions 32 Resources 32 Chapter 2 Diagnostic Techniques in Medical Genetics 34 Family History 34 Pedigree Analysis 34 Cytogenetic Studies 37 Fluorescence in Situ Hybridization 38 DNA Analysis 40 Biochemical Analysis 40 Chapter Summary 41 Key Terms 41 Chapter Review Questions 42 Resources 42 Chapter 3 Development and Teratogenesis 44 Embryonic Development 44 Implantation 44 Congenital Abnormalities 47 Thalidomide 49 TORCH Complex 50 Fetal Alcohol Syndrome 51 Tobacco 52 Cocaine 53 Vitamin A 53 Diethylstilbestrol 54 Chapter Summary 54 Key Terms 55 Chapter Review Questions 56 Resources 56 Chapter 4 Neurodegenerative Diseases 58 Alzheimer’s Disease 58 Huntington’s Disease 60 Chapter Summary 62 Key Terms 63 Chapter Review Questions 63 Resources 63 Chapter 5 Hereditary Breast and Ovarian Cancer Syndrome 66 Breast Cancer Genes 66 Founder Effect 68 Penetrance 69 Rare Syndromes Associated with Breast and Ovarian Cancer 69 Management Options 70 Genetic Testing 71 Chapter Summary 71 Key Terms 72 Chapter Review Questions 73 Resources 73 Chapter 6 Colorectal Cancer 74 Familial Colorectal Cancer 75 Hereditary Colorectal Cancer 76 Familial Adenomatous Polyposis 76 Hereditary Nonpolyposis Colorectal Cancer 77 Chapter Summary 79 Key Terms 80 Chapter Review Questions 81 Resources 81 Chapter 7 Chronic Myelogenous Leukemia 84 Major Phenotypic Features 84 Genetics of Chronic Myelogenous Leukemia 85 Phases of Chronic Myelogenous Leukemia 86 Treatment 86 Prognosis 88 Chapter Summary 88 Key Terms 88 Chapter Review Questions 89 Resources 90 Chapter 8 Hemophilia 92 Genetics of Hemophilia 93 Diagnosis 94 Genetic Testing and Counseling 95 Management and Treatment 96 Associated Syndromes 97 Chapter Summary 98 Key Terms 99 Chapter Review Questions 100 Resources 101 Chapter 9 Sickle Cell Disease 102 Genetics of Sickle Cell Disease 102 Phenotypic Features 103 Clinical Diagnosis and Testing 104 Other Sickle Cell Disorders 105 Management and Treatment 105 Genetic Counseling 106 Chapter Summary 107 Key Terms 107 Chapter Review Questions 108 Resources 108 Chapter 10 Hemochromatosis 110 Phenotypic Features 110 Genetics of HFE-Associated Hemochromatosis 111 Diagnosis 111 Genetic Testing and Counseling 113 Management and Treatment 114 Associated Syndromes 115 Chapter Summary 115 Key Terms 116 Chapter Review Questions 117 Resources 117 Chapter 11 Cystic Fibrosis 120 Phenotypic Features 120 Genetics 122 Diagnosis 123 Genetic Testing and Counseling 124 Management, Treatment, and Surveillance 124 Associated Syndromes 125 Chapter Summary 126 Key Terms 126 Chapter Review Questions 127 Resources 127 Chapter 12 Familial Thoracic Aortic Aneurysms and Dissections 128 Diagnosis 129 Genetic Testing and Counseling 132 Management and Treatment 133 Associated Syndromes 134 Chapter Summary 134 Key Terms 135 Chapter Review Questions 135 Resources 136 Chapter 13 Familial Hypercholesterolemia 138 Genetics 138 Environmental Risk Factors 139 Physical Examination Findings 139 Related Disorders 140 Environmental and Other Factors 141 Testing 141 Management and Surveillance 142 Chapter Summary 147 Key Terms 147 Chapter Review Questions 148 Resources 148 Chapter 14 Hereditary Cardiomyopathies 150 Diagnosis 151 Genetic Testing and Counseling 154 Management and Treatment 154 Associated Syndromes 155 Chapter Summary 156 Key Terms 157 Chapter Review Questions 157 Resources 157 Chapter 15 Marfan Syndrome 160 Phenotypic Features 160 Genetics of Marfan Syndrome 161 Diagnosis 161 Genetic Testing and Counseling 163 Management and Treatment 164 Associated Syndromes 164 Chapter Summary 165 Key Terms 165 Chapter Review Questions 165 Resources 166 Chapter 16 Polycystic Kidney Disease 168 Phenotypic Features 168 Genetics 170 Diagnosis 171 Genetic Testing and Counseling 172 Management, Treatment, and Surveillance 172 Associated Syndromes 173 Chapter Summary 174 Key Terms 174 Chapter Review Questions 175 Resources 175 Chapter 17 Neurofibromatosis 178 Genetics of Neurofibromatosis 179 Diagnosis 180 Medical Management 183 Chapter Summary 184 Key Terms 184 Chapter Review Questions 185 Resources 185 Chapter 18 Familial Malignant Melanoma 186 Environmental Factors 186 Phenotypic Features 187 Genetics 187 Diagnosis 188 Genetic Testing and Counseling 190 Associated Diseases 190 Management and Treatment 191 Chapter Summary 192 Key Terms 193 Chapter Review Questions 193 Resources 194 Chapter 19 Pharmacogenomics 196 Drug Metabolism 197 Pharmacogenomic Tests 199 Limitations and Ethical Issues 200 Chapter Summary 201 Key Terms 201 Chapter Review Questions 202 Resources 202 Chapter 20 Gene Therapy 204 Basic Process 204 Types of Gene Therapy 205 Viruses as Gene Therapy Vectors 206 Challenges Associated with Viral Vectors 208 Recent Progress 211 Chapter Summary 211 Key Terms 212 Chapter Review Questions 213 Resources 213 Chapter 21 Ethical, Legal, and Social Issues 216 Genetic Testing 216 Confidentiality 218 Conclusion 220 Chapter Summary 221 Key Terms 222 Chapter Review Questions 222 Resources 222 Glossary 224 Index 236 9780763759605

Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge. This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. Accompanying tables and images aid comprehension. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed.

Complete with stated objectives, definition of key terms, references, chapter summaries and end of chapter review questions with answers, each chapter is organized for optimal learning.

Essentials of Medical Genetics for Health Professionals will not only have application in the classroom setting for health professions or medical students, but practicing clinicians such as physician assistants, nurse practitioners, and physicians who want to learn more or revisit genetics will also find this book a valuable, useful resource.

Instructor Resources include PowerPoint Slides, a TestBank, and an Image Bank.