De novo balanced (X;14) translocation in a patient with recurrent miscarriages: Case report

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dc.citation.epage715en_US
dc.citation.issueNumber3en_US
dc.citation.spage712en_US
dc.citation.volumeNumber31en_US
dc.contributor.authorAlpaslan Pinarli F.en_US
dc.contributor.authorÖkten G.en_US
dc.contributor.authorÖzçelIk, T.en_US
dc.contributor.authorKara, N.en_US
dc.contributor.authorGüneş, S.en_US
dc.contributor.authorKoçak I.en_US
dc.date.accessioned2016-02-08T09:51:33Z
dc.date.available2016-02-08T09:51:33Z
dc.date.issued2011en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstractWe report a 23-year-old phenotypically normal female patient who had previously suffered from recurrent spontaneous abortion (RSA) who found to have an X;14 trans location and a Methylene- Tetrahdrofolate-Reductase (MTHFR) C677T heterozygote mutation. G-banding cytogenetic analysis was cultured from the peripheral blood lymphocy tes. MTHFR, factor V Leiden and prothrombin gene mutations were studied from DNA obtained from peripheral blood lym- phocytes with stripassay. DNA for X inactivation pattern study was also obtained with the method described above. G-banding cytogentic analysis from cultured peripheral blood lymphocytes of the patient revealed 46,XderX,t(X;14)(q13;q32) and found to be heterozygous for C677T MTHFR mutation. An X inactivation pattern study revealed a complete inactivated nor mal X chromosome, asexpected. The possible causes of recurrent miscarriages in our patient were unbalanced gametes, skewed X inactivation and MTHFR C677T heterozygote mutation. © 2011 by Türkiye Klinikleri.en_US
dc.identifier.doi10.5336/medsci.2009-13428en_US
dc.identifier.issn13000292
dc.identifier.urihttp://hdl.handle.net/11693/21820
dc.language.isoEnglish; Turkishen_US
dc.relation.isversionof10.5336/medsci.2009-13428en_US
dc.source.titleTurkiye Klinikleri Journal of Medical Sciencesen_US
dc.subjectAbortionen_US
dc.subjectGeneticen_US
dc.subjectHabitualen_US
dc.subjectHeterozygote detectionen_US
dc.subjectTranslocationen_US
dc.subjectX chromosome inactivationen_US
dc.subjectcell DNAen_US
dc.subjectcytosineen_US
dc.subjectthymineen_US
dc.subjectadulten_US
dc.subjectarticleen_US
dc.subjectcase reporten_US
dc.subjectchromosome 13qen_US
dc.subjectchromosome analysisen_US
dc.subjectchromosome translocation 14en_US
dc.subjectfactor V Leiden geneen_US
dc.subjectfemaleen_US
dc.subjectgeneen_US
dc.subjectgene mutationen_US
dc.subjectheterozygoteen_US
dc.subjecthumanen_US
dc.subjecthuman cellen_US
dc.subjectmethylene tetrahydrofolate reductase geneen_US
dc.subjectperipheral lymphocyteen_US
dc.subjectphenotypeen_US
dc.subjectprothrombin geneen_US
dc.subjectrecurrent diseaseen_US
dc.subjectspontaneous abortionen_US
dc.subjectX chromosomeen_US
dc.subjectX chromosome inactivationen_US
dc.titleDe novo balanced (X;14) translocation in a patient with recurrent miscarriages: Case reporten_US
dc.title.alternativeTekrarlayan düşükler yapan bir hastada doğumsal dengeli (X;14) translokasyonuen_US
dc.typeArticleen_US

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