A case with balanced reciprocal translocation carrier and habitual abortion

Abstract

In this study, we aimed to discuss the relation between habitual abortions and de novo balanced reciprocal translocation entity that determined from a woman case who applied to the laboratory with the aim of cytogenetic analysis by having 6 miscarriages and whose family has no miscarriage. Preparations obtained from the patient and her relatives by method of peripheric blood culture was banded by Trypsin Giemsa Banding (GTG) method after making her pedigree. A case with habitual abortions referred to our cytogenetic laboratory with six abortions. Her six pregnancy because of insufficiency development had been ended by medical application, when they had two months. Clinical examinations revealed that she has been normal phenotype, but conventional cytogenetic analyses showed that she had been a carrier of de novo balanced reciprocal translocation (46,XX, t(8;13)(p12;q14)). On the other hand, cytogenetic analyses of her husband, father, mother and four siblings revealed that they had been normal karyotypes. In results, it was convinced that the balanced reciprocal translocation may be the result of unknown de novo mechanism that without phenotype feature. We discussed relation between clinical findings and abortions of case who carrier of a de novo balanced reciprocal translocation. © 2012 OMU.