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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation NEJM 325:1673-1681, Rousseau,F.,et al, 1991 See this aricle in Pubmed Article Abstract DNA analysis unambiguously established the genetic status at the fragile X locus for all samples tested.This method was much more powerful and reliable than cytogenetic testing or segregation studies with closely linked polymorphic markers.The frequency of mental retardation in persons with permutations was similar to that in the general population,whereas all 103 males and 31 of 59 females with full mutations had mental retardation.About 15 percent of those with full mitations had some cells carrying only the premutation.All the mothers of affected children were carriers of either a premutation or a full mutation.Direct diagnosis by DNA analysis is now an efficient and reliable primary test for the diagnosis of the fragile X syndrome after birth,as well as for prenatal diagnosis and genetic counseling.

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(click to filter results - removes previous filter) DNA probes fragile-X syndrome genetic counselling genetic diagnosis,prenatal mental retardation neurologic disease,diagnoses of prenatal diagnosis by amniocentesis Southern immunoblot test

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