Friday, May 17, 2013

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

        There be everyplace 250 recognized sex-linked maladys, substitute every organ system. Of these, 95% affect males, (Emery, 1968). Despite these legion(predicate) sex-linked unhealthinesss, at present prenatal diagnosis shtup preciseally be made in nearlyer than 40 diseases. (Emery, 1968). These sex-linked diseases ar individual 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 steely- pilus syndrome. The following discourse considers the reasons for the importance of prenatal diagnosis, genetic endowment disturbs, and disfiguring birth breaks.(Nora,1989).         Fabry disease is a biochemical perturb caused by a wanting(p) enzyme. (Mulinsky, 1989). A complex fat substance accumulates in the remains because of the absentminded enzyme which would ordinarily break this obscure into pieces.(Nora,1989). This missing enzyme causes kidney and blood-vessel problems that lead to game blood pressure, kidney failure and strokes.(Mulinsky, 1989). After more historic period of symptoms, most patients give up died in their thirty-something and forties owing to a lack specific treatment.         A biochemical dis coiffure to a fault caused by a missing enzyme is the Lesch-Nyhan syndrome, an extremely unpleasant disorder characterized not simply by profound mental retardation and features of brain misemploy (stiff limbs with peculiar movements), merely also self-mutilation, (Jones, 1988).
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given good care and attention however, these patients may live on many years in their profoundly retarded state. They a swell deal require restraining, tying their hands, to go on them from mutilating themselves.         Another Affected children with Menkes steely-hair syndrome have hair that feels similar to steel woolen; in addition, they are retarded. The piece of assonic defect in this condition concerns the course the body handles copper.         Only a few of these sex-linked disorders can now be diagnosed in the fetus, (Stein, 1994). At the present time, the wholly recourse parents have in the suit of sex- linked diseases... If you want to make out a full essay, order it on our website: Orderessay

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