De novo balanced (X;14) translocation in a patient with recurrent miscarriages: Case report [Tekrarlayan düşükler yapan bir hastada doǧumsal dengeli (X;14) translokasyonu]
Alpaslan Pinarli F.
Turkiye Klinikleri Journal of Medical Sciences
712 - 715
MetadataShow full item record
Please cite this item using this persistent URLhttp://hdl.handle.net/11693/21820
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.
- Research Paper 7144
Showing items related by title, author, creator and subject.
Okten G.; Gunes, S.; Onat O.E.; Tukun, A.; Ozcelik, T.; Kocak I. (2013)We present a case of a 19-year-old phenotypically normal girl with premature ovarian failure. Cytogenetic analysis using G banding and fluorescence in situ hybridization (FISH) from cultured peripheral blood lymphocytes ...
Huddleston J.; Ranade, S.; Malig, M.; Antonacci F.; Chaisson, M.; Hon L.; Sudmant P.H.; Graves, T.A.; Alkan, C.; Dennis, M.Y.; Wilson, R.K.; Turner, S.W.; Korlach J.; Eichler, E.E. (Cold Spring Harbor Laboratory Press, 2014)Obtaining high-quality sequence continuity of complex regions of recent segmental duplication remains one of the major challenges of finishing genome assemblies. In the human and mouse genomes, this was achieved by targeting ...
Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases Chabchoub G.; Uz, E.; Maalej, A.; Mustafa, C.A.; Rebai, A.; Mnif, M.; Bahloul, Z.; Farid, N.R.; Ozcelik, T.; Ayadi H. (2009)Introduction: The majority of autoimmune diseases such as rheumatoid arthritis (RA) and autoimmune thyroid diseases (AITDs) are characterized by a striking female predominance superimposed on a predisposing genetic background. ...