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Prenatel DianosisHeredity Disorders Other Biochemical Diseases and Disfiguring Birth DefectsThere are over 250 recognized sex-linked diseases affecting every organ systemOf these 95 affect males Emery 1968 Despite these many sex-linked diseases atpresent prenatal diagnosis can specifically be made in fewer than 40 diseases Emery1968 These sex-linked diseases are individual rare and some are named afterphysicians who described them for example Hemophilia A and B Duchenne musculardystrophy fragile-X syndrome Fabry disease Hunter syndrome Lesch-Nyhan syndromeand Menkes steely-hair syndrome The following discourse considers the reasons for theimportance of prenatal diagnosis heredity disorders and disfiguring birthdefectsNora1989 Fabry disease is a biochemical disorder caused by a missing enzyme Mulinsky1989 A complex fatty substance accumulates in the body because of the missingenzyme which would ordinarily break this compound into piecesNora1989 Thismissing enzyme causes kidney and blood-vessel problems that lead to high bloodpressure kidney failure and strokesMulinsky 1989 After many years of symptomsmost 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-Nyhansyndrome an extremely unpleasant disorder characterized not only by profound mentalretardation and features of brain damage stiff limbs with peculiar movements but alsoself-mutilation Jones 1988 Given good care and attention however these patientsmay live on many years in their profoundly retarded state They often require restrainingtying their hands to prevent them from mutilating themselves Another Affected children with Menkes steely-hair syndrome have hair that feelssimilar to steel wool in addition they are retarded The basic defect in this conditionconcerns the way the body handles copper Only a few of these sex-linked disorders can now be diagnosed in the fetusStein 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 the sex of the fetus Ifa female fetus is found the parents can be reassured that their child will not be affecteda critical exception is fragile-X However if it
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