Thursday, November 28, 2013

Prenatel Dianosis: Heredity Disorders, Other Biochemical Diseases, and Disfiguring Birth Defects

        There be over 250 recognized sex-linked infirmitys, castrate every organ system. Of these, 95% affect males, (Emery, 1968). Despite these legion(predicate) sex-linked sicknesss, at present prenatal diagnosis can preciseally be made in someer than 40 diseases. (Emery, 1968). These sex-linked diseases are unmarried rare and some are named after physicians who described them, for example, bleeders disease A and B, Duchenne muscular dystrophy, fragile-X syndrome, Fabry disease, Hunter syndrome, Lesch-Nyhan syndrome, and Menkes makey- pilus syndrome. The followe parley considers the reasons for the importance of prenatal diagnosis, genetic endowment overturns, and disfiguring birth breaks.(Nora,1989).         Fabry disease is a biochemical dis revision caused by a lacking(p) enzyme. (Mulinsky, 1989). A complex fatty substance accumulates in the frame because of the missing enzyme which would ordinarily break this compound into piece s.(Nora,1989). This missing enzyme causes kidney and blood-vessel problems that triad to game blood pressure, kidney failure and strokes.(Mulinsky, 1989). After many long time of symptoms, most patients have died in their thirties and forties owing to a lack specific treatment.         A biochemical disorder excessively caused by a missing enzyme is the Lesch-Nyhan syndrome, an extremely bitter disorder characterized not simply by profound mental retardation and features of brain damage (stiff limbs with peculiar movements), merely also self-mutilation, (Jones, 1988).
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Given good care and att ention however, these patients may die hard! on many years in their profoundly retard state. They a great deal require restraining, tying their hands, to delay them from mutilating themselves.         Another Affected children with Menkes steely-hair syndrome have hair that feels similar to steel wool; in addition, they are retarded. The basic defect in this condition concerns the way the body handles copper.         Only a a few(prenominal) of these sex-linked disorders can now be diagnosed in the fetus, (Stein, 1994). At the present time, the only recourse parents have in the meet of sex- linked diseases... If you want to get a full essay, order it on our website: BestEssayCheap.com

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