Alpaslan Pinarli F.Ökten G.ÖzçelIk, T.Kara, N.Güneş, S.Koçak I.2016-02-082016-02-08201113000292http://hdl.handle.net/11693/21820We 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.English; TurkishAbortionGeneticHabitualHeterozygote detectionTranslocationX chromosome inactivationcell DNAcytosinethymineadultarticlecase reportchromosome 13qchromosome analysischromosome translocation 14factor V Leiden genefemalegenegene mutationheterozygotehumanhuman cellmethylene tetrahydrofolate reductase geneperipheral lymphocytephenotypeprothrombin generecurrent diseasespontaneous abortionX chromosomeX chromosome inactivationArticle10.5336/medsci.2009-13428