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A balanced reciprocal translocation case in family with a history of recurrent abortions:46,XY,t(4;13)(q31.3;q33)

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Author(s): Etem Akbaş | Hicran Şenli | Selahittin Çayan | Zuhal Mert Altintaş | Badel Arslan Mamur | Filiz Çayan | Gözde Türköz | Nazan Eras Erdoğan

Journal: Journal of Clinical and Experimental Investigations
ISSN 1309-8578

Volume: 3;
Issue: 2;
Start page: 290;
Date: 2012;
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Keywords: Balanced translocation (4 | 13) | habituel abortus | monosomy | trisomy | 4qteràq31.3 | 13qà33qter

ABSTRACT
Objective: A couple with recurrent spontaneous abortionshas been referred to cytogenetic laboratory of MedicalBiology and Genetics Department for chromosomalanalysis.Material and methods: For chromosome analysis, peripheralblood culture was performed. The samples werestained by Giemsa Technique (GTG).Results: Twenty metaphase chromosomes were karyotyped,and 46,XY,t(4;13)(q31.3-q33) karyotype was identifiedin the case. As a result of the analysis, his wifewas found to have normal karyotype. He had balancedtranslocation between chromosome 4 and 13 breakpointsin bands: der(4) monosomy 4qteràq31.3, trisomy13qà33qter, and der(13) trisomy 4qteràq31.3, monosomy13qà33qter.Conclusions: Although no phenotypically abnormalitieswere found in the male, the habituel abortions werefrequently observed in his wife. We concluded thatthis carrier family might be due to the unbalanced distribution(46,XY/46,XX, monosomy 4qteràq31.3, trisomy13qà33qter or 46,XY/46,XX,der(13) trisomy4qteràq31.3, monosomy 13qà33qter) of translocationduring gamete formation and prenatal diagnosis recommendedfor their further pregnancies. J Clin Exp Invest2012; 3(2): 290-292
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