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dc.contributor.authorKeser, İbrahim
dc.contributor.authorLüleci, Güven
dc.contributor.authorAlkan, Mualla
dc.date.accessioned2016-05-01T09:33:58Z
dc.date.available2016-05-01T09:33:58Z
dc.date.issued2000
dc.identifier.urihttp://hdl.handle.net/11424/4491
dc.description.abstractObjective: The aim of this study was to optimize the diagnosis of the fragile X syndrome in six large families with fragile X syndrome in Turkey. Methods: Southern blot analysis was performed to identify the mutations of the FMR 1 gene localized on FRAXA locus using StB12.3 probe among 36 members (19 males, 17 females) of fragile X families and controls (8 males, 8 females) following cytogenetic analysis by fragile X induction methods. Results: Eleven males and 9 females had full mutations, while 7 males and 3 females had normal range of CGG repeats. One female who was found positive by cytogenetic analysis had mosaic mutation (Y2[ll-3] with 6.0, 5.2, 2.8 kb fragment sizes). Five females had premutations and 1 male had atypical fragment pattern. Conclusion: We suggest that, diagnosis of fragile X syndrome is not possible only by cytogenetic analysis. For appropriate counseling it is recommended that all members of the fragile X family under risk should be screened both by cytogenetic and molecular methods.en_US
dc.language.isoengen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFragile X syndrome, DNA analysis, Mosaicism, StB12,3 probe.en_US
dc.titleThe results of molecular and cytogenetıc analysıs ın 6 famılıes wıth fragıle - x syndrome ın turkeyen_US
dc.typearticleen_US
dc.contributor.authorIDTR135128en_US
dc.relation.journalMarmara Medicial Journalen_US
dc.contributor.departmentDepartment of Medical Biology and Genetics, School of Medicine, Akdeniz University, Antalya, Turkeyen_US
dc.identifier.volume13en_US
dc.identifier.issue1en_US
dc.identifier.startpage7en_US
dc.identifier.endpage10en_US


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