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.

Editor(s)

Advisor

Supervisor

Co-Advisor

Co-Supervisor

Instructor

BUIR Usage Stats
4
views
8
downloads

Citation Stats

Series

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.

Source Title

Turkiye Klinikleri Journal of Medical Sciences

Publisher

Course

Other identifiers

Book Title

Degree Discipline

Degree Level

Degree Name

Citation

Published Version (Please cite this version)

Language

English; Turkish