© Jules_Kitano/ShutterStock CHAPTER 17 Familial Hypercholesterolemia CHAPTER OBJECTIVES Describe the etiology and various forms of familial hypercholesterolemia. Detail symptoms associated with familial hypercholesterolemia. Discuss allelic variants, loss-of-function mutations, and gain-of-function…
© Jules_Kitano/ShutterStock CHAPTER 16 Familial Thoracic Aortic Aneurysms and Dissections CHAPTER OBJECTIVES Describe the etiology and various forms of familial thoracic aortic aneurysms and dissections. Detail symptoms associated with familial…
© Jules_Kitano/ShutterStock CHAPTER 15 Muscular Dystrophies CHAPTER OBJECTIVES Describe the etiology and various forms of muscular dystrophies. Detail symptoms associated with muscular dystrophies. Discuss diagnostic criteria for muscular dystrophies. Discuss…
© Jules_Kitano/ShutterStock CHAPTER 14 Osteogenesis Imperfecta CHAPTER OBJECTIVES Describe the etiology and various forms of osteogenesis imperfecta. Detail the symptoms associated with osteogenesis imperfecta. Discuss the diagnostic criteria of osteogenesis…
© Jules_Kitano/ShutterStock CHAPTER 13 Cystic Fibrosis CHAPTER OBJECTIVES Describe the etiology and various forms of cystic fibrosis. Describe related disorders, such as congenital absence of vas deferens. Detail phenotypic features,…
© Jules_Kitano/ShutterStock CHAPTER 12 Hemochromatosis CHAPTER OBJECTIVES Describe etiology and forms of hemochromatosis. Detail phenotypic features, symptoms, and physical examination findings associated with hemochromatosis. Discuss sex-influenced phenotype, variable expressivity, and…
© Jules_Kitano/ShutterStock CHAPTER 9 Chronic Myelogenous Leukemia CHAPTER OBJECTIVES Describe hematology associated with chronic myelogenous leukemia. Detail signs and symptoms associated with chronic myelogenous leukemia. Define the Philadelphia chromosome. Provide…
© Jules_Kitano/ShutterStock CHAPTER 8 Colorectal Cancer CHAPTER OBJECTIVES Describe signs and symptoms associated with colorectal cancer. Identify colorectal cancer screening tests. Differentiate between sporadic and hereditary colorectal cancer. Detail genetic…
© Jules_Kitano/ShutterStock CHAPTER 7 Hereditary Breast and Ovarian Cancer Syndrome CHAPTER OBJECTIVES Describe the genes involved in hereditary breast and ovarian cancer. Identify risks associated with mutations in breast cancer…
© Jules_Kitano/ShutterStock CHAPTER 3 Prenatal Genetics CHAPTER OBJECTIVES To understand the difference between prenatal screening and prenatal testing To compare and contrast the various types of aneuploidy screening To describe…
