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

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      Author
      Alpaslan Pinarli F.
      Ökten G.
      ÖzçelIk, T.
      Kara, N.
      Güneş, S.
      Koçak I.
      Date
      2011
      Source Title
      Turkiye Klinikleri Journal of Medical Sciences
      Print ISSN
      13000292
      Volume
      31
      Issue
      3
      Pages
      712 - 715
      Language
      English; Turkish
      Type
      Article
      Item Usage Stats
      127
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      Abstract
      We 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.
      Keywords
      Abortion
      Genetic
      Habitual
      Heterozygote detection
      Translocation
      X chromosome inactivation
      cell DNA
      cytosine
      thymine
      adult
      article
      case report
      chromosome 13q
      chromosome analysis
      chromosome translocation 14
      factor V Leiden gene
      female
      gene
      gene mutation
      heterozygote
      human
      human cell
      methylene tetrahydrofolate reductase gene
      peripheral lymphocyte
      phenotype
      prothrombin gene
      recurrent disease
      spontaneous abortion
      X chromosome
      X chromosome inactivation
      Permalink
      http://hdl.handle.net/11693/21820
      Published Version (Please cite this version)
      10.5336/medsci.2009-13428
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      • Department of Molecular Biology and Genetics 426
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