Akademik Veri Yönetim Sistemi
6. ULUSLARARASI ERCİYES TIP TIBBİ GENETİK KONGRESİ, Kayseri, Türkiye, 16 - 18 Eylül 2021, cilt.33, sa.1, ss.40
Recurrent pregnancy loss (RPL) is a phenomenon caused by many etiologies. The majority of these causes are chromosomal anomalies. In
this case report, cytogenetic analysis was applied to the family who consulted to our department with the complaint of RPL, and a normal
karyotype was found in the woman (46, XX). However, t(2;7)(p23;q35) translocation was detected in the male. Reciprocal translocations are
a common class of chromosomal abnormalities and we anticipate that this case of translocation will be a new cause for RPL. In the analysis,
preparations at the level of 500 bands were examined. At least 20 metaphase areas were evaluated. From the results of cytogenetic and FISH
analysis, we determined that the patient had t(2;7)(p23;q35) chromosomal anomaly. The probe binding the patient's 2p23 region signaled
at the q-terminal of the chromosome 7. However, the other two chromosomes (2 and 7) were normal. We could not find such a case in the
literature for recurrent pregnancy loss complaints. With this case, it will be reported for the first time in the literature that the embryo formed
with the gametes carrying unbalanced genetic material of an individual with the karyotype 46,XY,t(2;7)(p23;q35) is incompatible with life.