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Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence NEJM 325:1720-1738, Sutherland,G.R.,et al, 1991 See this aricle in Pubmed Article Abstract Fragile X syndrome is the most common form of familial mental retardation. Its prenatal diagnosis has relied on cytogenetic detection of the fragile X chromosome in cultured amniotic fluid,chorionicvillis cells,or fetal blood obtained by cordocentesis.The rate of misdiagnosis is about 5 percent and is due to rare false positive and more frequent false negative diagnoses.A molecular-genetic approach using DNA polymorphisms linked to the fragile site is feasible for diagnosis,but the results are probabilistic rather than absolutely diagnostic,The fragile X syndrome has recently been shown to be characterized by an unstable DNA sequence that can be detected by Southern blot analysis.We report the use of this approach to establish the carrier status of a cytogenetically normal woman in a family with the fragile X syndrome and to diagnose the mutation in her male fetus by detecting the unstable sequence in DNA obtained by chorionicvillus sampling.

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

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