Intro -- Title Page -- Copyright Page -- Dedication -- Special Acknowledgments -- Contents -- Preface -- Contributors -- Reviewers -- Chapter 1 Introduction -- Basic Genetics -- Mutation -- Nondisjunction Syndromes -- Genes in Individuals -- Inheritance Patterns -- Human Genome Project -- Chapter Su...

Ausführliche Beschreibung

Bibliographische Detailangaben

1. Verfasser:	Gunder McClary, Laura M. (VerfasserIn)
Format:	Elektronisch E-Book
Sprache:	English
Veröffentlicht:	Burlington Jones & Bartlett Learning, LLC [2020]
Schlagworte:	Electronic books
Online-Zugang:	FUBA2 Volltext
Zusammenfassung:	Intro -- Title Page -- Copyright Page -- 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
Beschreibung:	1 Online-Ressource (xxvii, 345 Seiten)
ISBN:	9781284154252