Porth's Essentials Of Pathophysiology 5th Edition: Chapter 5 Exam Questions (17 Terms) With Verified Definitions Updated 2024

What is Tay-Sachs? {Ans: From the failure to breakdown GM2 gangliosidoses causing accumulation in lysosomes, eventually resulting in destruction of neurons. Death often occurs before age 4-5.}What are congenital defects? {Ans: Abnormalities of a body structure, function, or metabolism that are present at birth.}What are clinical manifestations of Down syndrome? {Ans: Congenital heart defects, intestinal malformations, intellectual disability, and increased risk of Alzheimer disease when older.}What is nondisjunction? {Ans: Results in germ cells with an even number of chromosomes.}What are the clinical manifestations of Marfan syndrome? {Ans: Myopia, vertebral deformity, long limbs and fingers, aortic aneurysms and floppy valves, and joint hyper mobility.}What are the clinical manifestation of fragile X? {Ans: Long face, large ears, intellectual disability, mitral valve prolapse, and hyper extendible joints.}What does the basic biological anomaly in Marian syndrome affect? {Ans: Fibrillin 1, a major component of microfibrils found in the extra cellular matrix.}What is polysomy? {Ans: Having more than 2 pairs of a chromosome.}What is reduced gene penetrance (colloquially called generation-skipping)? {Ans: When an individual has the genotype to express a defect but is unaffected.}What are the two types of NF? {Ans: Type 1 (cutaneous and