De Novo Balanced (X;14) Translocation in a Patient with Recurrent Miscarriages: Case Report

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Pinarli F. A., Okten G., ÖZÇELİK T., Kara N., Güneş S., Koçak İ.

TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, cilt.31, sa.3, ss.712-715, 2011 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 3
  • Basım Tarihi: 2011
  • Doi Numarası: 10.5336/medsci.2009-13428
  • Dergi Adı: TURKIYE KLINIKLERI TIP BILIMLERI DERGISI
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.712-715
  • Anahtar Kelimeler: Abortion, habitual, heterozygote detection, X chromosome inactivation, translocation, genetic, X-CHROMOSOME INACTIVATION, AUTOSOME TRANSLOCATIONS, WOMEN
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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 lymphocytes 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.