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• W2000681481 abstract "The structural chromosomal rearrangements are common in general population. Even balanced translocation carriers could have risk for having children with unbalanced chromosomes, they are phenotypically normal. Therefore, translocation can be observed with a higher incidence in couples with a history of recurrent abortions than the general population. In this study, we presented a 20 year old female patient referred to our laboratory from Department of Gynecology and Obstetrics. She had two abortions in the first trimester (12 and 8 gestational weeks). She does not have any living child. Her other past medical history and physical examination were unremarkable. The family history of proband revealed that her mother had three girls and three boys alive. The 40 year-old mother of proband’s husband had a stilbirth. According to G banding karyotype analysis, balanced translocation, 46, XX, t(4;9) (q21;q13), was diagnosed in the peripheral blood taken from her and her mother. Balanced translocation carriers could give unbalanced chromosomes to their newborn child. Also this observed situation shows an increase in the risk of abortion and physical anomalies. We concluded that the abortions in the family carrying balanced translocation might be due to the unbalanced distribution of chromosome translocation during gamete formation. Prenatal diagnosis should be recommended for their further pregnancies. Tekrarlayan dusukler ve dengeli translokasyon t(4;9(q21;q13) Yapisal kromozomyeniden duzenlemeleri genel toplumda yaygindir. Dengeli translokasyon tasiyicisi bireyler fenotipik olarak normaldir fakat kromozomal olarak dengesiz gamet uretme yonunden anlamli oranda artmis riske sahiptirler. Bu nedenle, translokasyon genel nufusa gore tekrarlayan dusuk oykusu olan ciftlerde daha yuksek bir insidans ile izlenebilir. Bu calismada, Kadin Hastaliklari ve Dogum Bolumu’nden laboratuarimiza yonlendirilen 8 ve 12 haftalik iki ilk trimester dusuk oykusu olan 20 yasinda bir kadin olgu sunulmaktadir. Olgumuzun yasayan cocugu yoktur. Olgumuzun gecmis medikal oykusu ve fizik muayenesi normaldir. Probandin aile hikayesinde, annesinin uc kizi ve yasayan bir oglu oldugu gorulmustur. Probandin kocasinin 40 yasindaki annesinin bir oludogum oykusu vardir. Olgumuz ve annesinin periferal kanindan elde edilen G-bant karyotip analizinde dengeli translokasyon 46, XX, t(4;9) (q21;q13) saptanmistir. Dengeli translokasyon tasiyiciligina sahip ailelerde meydana gelen dusuklerin gamet olusumu sirasinda dengeli translokasyonlarin dengesiz gametler olusturabilmesi nedeniyle olabilecegi sonucuna varilmistir. Prenatal tani dengeli translokasyon tasiyicisi bireylerin sonraki gebelikleri icin tavsiye edilmelidir.J. Exp. Clin. Med., 2012; 29: 221-223" @default.
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• W2000681481 date "2012-10-22" @default.
• W2000681481 modified "2023-10-18" @default.
• W2000681481 title "Recurrent miscarriages and balanced translocation t(4;9)(q21;q13)" @default.
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• W2000681481 doi "https://doi.org/10.5835/jecm.omu.29.03.010" @default.
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