Pathophysiology--NU545-- UNIT 7 --Chromosomes, Cancers, Burns, and Shock || Already Graded A+.

Characteristics of Down Syndrome correct answers low nasal bridge -epicanthal folds -protruding tongue -low-set, flat ears -Poor muscle tone -short stature Patho Down Syndrome correct answers About 97% of cases are caused by nondisjunction during the formation of one of the parent's metes of during early embryonic development. The remaining 3% result from translocations. Cystic Fibrosis correct answers An autosomal recessive inherited disorder that is associated with defective epithelial chloride ion transport. Defective gene is located on chromosome 7. Locus correct answers Each gene occupies a position along a chromosome Alleles correct answers Genes at particular locus can take different forms (ie. They can be composed of different nucleotides sequences). Heterozygote correct answers In many loci the effects of one allele mask those of another when the two are found together . Dominant correct answers The allele whose effects are observable. Recessive correct answers The allele whose effects are hidden. Carrier correct answers An individual who has a disease-causing allele but is phenotypically normal. Criteria for Autosomal Recessive correct answers 1. Males and females are affected in equal proportions 2. Consanguinity is sometimes present 3. The disease is seen in siblings but usually not in their parents 4. On the average, one fourth of the offspring of carrier parents will be affected. Risk factors for Diabetes Mellitus 2 correct answers Age, Obesity, hypertension, physical inactivity, family Hx, Metabolic Syndrome, and Polycystic Ovary syndrome. Carcinoma correct answers Epithelial cell tumor. -They originate from highly differentiated and polarized epithelial cells that form structured sheets stabilized by multiple adherences to neighboring cells and to basement membrane (an extracellular meshwork of collagens and other connective tissue proteins) along the cells' basal surface.