De novo balanced (X;14) translocation in a patient with recurrent miscarriages: Case report
Author
Alpaslan Pinarli F.
Ökten G.
ÖzçelIk, T.
Kara, N.
Güneş, S.
Koçak I.
Date
2011Source Title
Turkiye Klinikleri Journal of Medical Sciences
Print ISSN
13000292
Volume
31
Issue
3
Pages
712 - 715
Language
English; Turkish
Type
ArticleItem Usage Stats
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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
AbortionGenetic
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/11693/21820Published Version (Please cite this version)
10.5336/medsci.2009-13428Collections
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