TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, vol.30, no.5, pp.1465-1468, 2010 (SCI-Expanded)
Objective: Invertion and balanced chromosome translocations are most frequently seen chromosomal rearrangements in couples with recurrent reproductive failure. About 5% of the couples with recurrent losses have chromosomal structural rearrangements. Balanced cryptic chromosomal rearrangements that can be missed by conventional cytogenetic karyotyping could be responsible for recurrent abortions in couples with apparently normal karyotypes. The aim of this prospective study was to determine the frequency of balanced subtelomeric chromosomal rearrangements by chromosomal subtelomeric region screening in karyotypically normal couples with idiopathic recurrent spontaneous abortions. Material and Methods: The study was performed on 70 couples proven to be clinically normal who had three or more spontaneous abortions and whose karyotypes were found to be normal. Hybridization and analysis of the telomere regions of the all autosomal and gonosomal chromosomes were performed by fluorescence in situ hybridization technique with the usage of the specific probes of the subtelomeric regions. Results: No chromosomal rearrangements including subtelomeric translocations could be identified in 140 cases. Besides, no polymorphic increased and/or decreased signals were seen in the analysis of 1400 metaphases. Conclusion: Balanced cryptic chromosomal rearrangements can cause balanced reciprocal translocations in the couples with recurrent spontaneous abortions. Subtelomeric cryptic rearrangements of these couples were screened in this study and no relations were found between the subtelomeric rearrangements and the multiple miscarriages, concordant with the reports in the literature. However, having not only multiple miscarriages but also infants with mental and physical abnormalities may an important indication for subtelomeric region analysis.