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There are over 250 recognized sex-linked diseases affecting every organ system Of these 95 affect males Emery 1968 Despite these many sex-linked diseases at present prenatal diagnosis can specifically be made in fewer than 40 diseases Emery 1968 These sex-linked diseases are individual rare and some are named after physicians who described them for example Hemophilia A and B Duchenne muscular dystrophy fragile-X syndrome Fabry disease Hunter syndrome Lesch-Nyhan syndrome and Menkes steely-hair syndrome The following discourse considers the reasons for the importance of prenatal diagnosis heredity disorders and disfiguring birth defectsNora1989 Fabry disease is a biochemical disorder caused by a missing enzyme Mulinsky 1989 A complex fatty substance accumulates in the body because of the missing enzyme which would ordinarily break this compound into piecesNora1989 This missing enzyme causes kidney and blood-vessel problems that lead to high blood pressure kidney failure and strokesMulinsky 1989 After many years of symptoms most patients have died in their thirties and forties owing to a lack specific treatment A biochemical disorder also caused by a missing enzyme is the Lesch-Nyhan syndrome an extremely unpleasant disorder characterized not only by profound mental retardation and features of brain damage stiff limbs with peculiar movements but also self-mutilation Jones 1988 Given good care and attention however these patients may live on many years in their profoundly retarded state They often require restraining tying their hands to prevent 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 few 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 case of sex- linked diseases that are not prenatally diagnosable is to determine
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