Detection of subtelomeric chromosomal rearrangements of the couples who had recurrent miscarriages

ABSTRACT In this study, Fluorescence In Situ Hybridization (FISH) analysis was used to detect cyrptic translocations in the chromosomal telomeric regions of five couples who have five and more spontaneous abortions and whose karyotype were normal by using conventional cytogenetic techniques. Chromosome analysis was performed in five couples and the patients who had normal karyotype were investigated for immunological, endocrinological and anotomical factors. FISH by multible probe sets spesific for telomeres was applied to patients who were evaluated to be clinically normal. By using the telomere spesific probes, we identified the signals using fluorescence microscope. In one couple we determine a cryptic translocation between chromosome 3 and 10. And in another couple the signal in the chromosome 20 was detected in another chromosome which is not identified. Besides, in this couple and the other two couples we observed polymorphism as the presence and absence of signals. The approach will be helpful for screening cyrptic translocations by using telomere spesific multiple probe sets in couples who had recurrent miscarriages. As prenatal diagnosis will be available for these couples for future pregnancies, it will be possible to help these families to have healthy fetuses. Key Words; Cryptic Translocation, FISH, Telomeric Probe, Recurrent Miscarriages.