NSC 350 Genetic disorders
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Created by:
txibarra Plus on February 3, 2012
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NSC 350 Exam 1 Genetic & Congenital Dirsorders
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24 terms
Terms | Definitions |
|---|---|
 Marfan's | autosome dominant- connective tissue, eye, vascular skeletal , dominant; allele codes for defective protein fibrillin (found in connective tissue, aorta) |
| Mytonic dystrophy | Autosomal dominant Caused by mutation in the DM-1 or myotonin protein kinase gene which is expressed in brain, heart, and muscle Mutation leads to decreased mRNA levels CTG repeat. |
| Huntington's chorea | automsome dominant Inherited disease of the CNS that usually has its onset in people between 30 and 50 years of age. This disease is characterized by quick, involuntary movements, speech disturbances, and mental deterioration. |
| familial hypercholesterolemia | automsome dominant congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis |
| von Willebrand's | -Autosomal dominant transmission -Occurs equally in males and females -Deficiency of entity 2 of Factor VIII. They also have a problem in platelet function. |
| polycystic kidney disease | -Autosomal dominant transmission a genetic disorder characterized by the growth of numerous fluid-filled cysts in the kidneys |
| PKU | Autosomal Recessive A human genetic defect that results in the failure to metabolize phenylalanine., |
| Tay-Sachs | Autosomal Recessive faulty lysosomes can't break down fat in the brain, motor problems |
| cystic fibrosis | Autosomal Recessive a genetic disorder in which the lungs and pancreas are clogged with large quantities of abnormally thick mucus |
| sickle cell anemia | Autosomal Recessive a genetic disorder in which erythroctyes take on an abnormal curved or "sickle" shape |
| Thalassemias | Autosomal Recessive Disorders associated with an imbalance in the production of alpha or beta globin. |
| down syndrome | chromosomes defect chromosomal abnormality (trisomy 21) results in mental retardation, retarded growth, a flat face with a short nose, low-set ears, and slanted eyes |
| klinefelter's | sex linked chromosomes defect , in males; extra X chromosome that interferes with meiosis and usually prevents the individual from reproducing |
| Turner's syndrome | sex linked chromosomes defect where females only have a single x chromosome instead of two |
| Hemophilia A | sex linked chromosomes defect hemophilia caused by a congenital deficiency of factor VIII |
| Duchenne's Muscular Dystrophy | sex linked chromosomes defect appears between 2-6 years of age; and progresses slowly; survival is rare beyond the late 20s |
| cleft lip or palate | multifactorial disorder resulting in gap or space in the upper lip or hole in roof of mouth, 1/3000 births, increase to 3% if one child has it |
| clubfoot | multifactorial disorder congenital deformity of the foot usually marked by a curled shape or twisted position of the ankle and heel and toes |
| congenital dislocation of the hip | Multifactorial Inheritance 1:1000 births |
| congenital heart disease | Multifactorial Inheritance heart abnormality present at birth |
| pyloric stenosis | Multifactorial Inheritance narrowing of the pyloric sphincter that blocks the passage of food from the stomach into the duodenum |
| Unrinary tract malformation | Multifactorial Inheritance |
| microcephaly | FAS related |
| strabismus | FAS related cross eyed |
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