ABSTRACT
Bu yazıda tekrarlayan düşükleri olan t(1;3)(p35;p21.3), inv(9)(p11q11) ve Metilen-Tetrahidrofolat Reduktaz (MTHFR) geni C677T heterozigot mutasyon taşıyıcısı 23 yaşında bir kadın olgu sunuldu. Sitogenetik analizde Giemsa Tripsin Bantlama (GTG) ve C bantlama metodu, moleküler analizde strip test uygulandı. Normal fenotipli olgunun karyotipi 46,XX,t(1;3) (p35;p21.3), inv(9)(p11q11) saptandı. Ayrıca, MTHFR C677T heterozigot mutasyon taşıyıcısı olduğu belirlendi. Olgunun annesi ve erkek kardeşinde de aynı translokasyon bulundu. Ayrıca düşükleri olan annesinde MTHFR geni C677T heterozigot mutasyonu saptandı, babanın karyotipi normaldi. Olgumuzda, dengeli translokasyonlar sonucu oluşan dengesiz gamet, trombofili ve inversiyon 9'un düşüklerin nedeni olabileceği düşünüldü.

ÖZET
We report that a 23 year-old-woman with recurrent miscarriages associated with t(1;3)(p35;p21.3),inv(9)(p11q11) and heterozygote C677T mutation for Methylen-Tetrahydrofolat-Reductase (MTHFR) gene. Cytogenetic analysis was performed by GTG (Giemsa Trypsin Banding) and C banding methods. Molecular analysis was performed by strip assay. The phenotypically normal patient was found 46,XX,1t(1;3)(p35;p21.3), inv(9)(p11q11) and heterozygote C677T mutation for MTHFR gene. The same balanced translocation was found in patient's mother and brother. In addition the same MTHFR C677T heterozygous mutation was found in patient's mother who had also miscarriages, the karyotype of father was normal. We suggest that an unbalanced translocation during gamete formation, thrombophilic status and inversion 9 might be the cause of recurrent miscarriages in our case.