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

Date
2011
Authors
Alpaslan Pinarli F.
Ökten G.
ÖzçelIk, T.
Kara, N.
Güneş, S.
Koçak I.
Advisor
Instructor
Source Title
Turkiye Klinikleri Journal of Medical Sciences
Print ISSN
13000292
Electronic ISSN
Publisher
Volume
31
Issue
3
Pages
712 - 715
Language
English; Turkish
Type
Article
Journal Title
Journal ISSN
Volume Title
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.

Course
Other identifiers
Book Title
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
Citation
Published Version (Please cite this version)