A balanced reciprocal translocation case in family with a history of recurrent abortions: 46,XY,t(4;13)(q31.3;q33)

Abstract

Objective: A couple with recurrent spontaneous abortions has been referred to cytogenetic laboratory of Medical Biology and Genetics Department for chromosomal analysis. Material and methods: For chromosome analysis, peripheral blood culture was performed. The samples were stained by Giemsa Technique (GTG). Results: Twenty metaphase chromosomes were karyotyped, and 46,XY,t(4;13)(q31.3-q33) karyotype was identified in the case. As a result of the analysis, his wife was found to have normal karyotype. He had balanced translocation between chromosome 4 and 13 breakpoints in bands: der(4) monosomy 4qteràq31.3, trisomy 13qà33qter, and der(13) trisomy 4qteràq31.3, monosomy13qà33qter. Conclusions: Although no phenotypically abnormalities were found in the male, the habituel abortions were frequently observed in his wife. We concluded that this carrier family might be due to the unbalanced distribution (46,XY/46,XX, monosomy 4qteràq31.3, trisomy 13qà33qter or 46,XY/46,XX,der(13) trisomy 4qteràq31.3, monosomy 13qà33qter) of translocation during gamete formation and prenatal diagnosis recommended for their further pregnancies. J Clin Exp Invest 2012; 3(2): 290-292

Keywords

• Balanced translocation (4;13), habituel abortus, monosomy, trisomy, 4qteràq31.3, 13qà33qter.

Tekrarlayan düşük öykülü ailede dengeli resiprokal translokasyon olgusu: 46,XY,t(4;13)(q31.3;q33)

Öz

Amaç: Bu çalışmada, tekrarlayan gebelik kaybı öyküsü nedeniyle Tıbbi Biyoloji ve Genetik laboratuarına yönlendirilen çiftin kromozomları incelendi. Gereç ve yöntemler: Kromozom analizi için periferal kan kültürü yapıldı. Preparatlar Giemsa (GTG) tekniği kullanılarak boyandı. Sonuçlar: 20 metafaz karyotiplendi, vakada 46,XY,t(4;13)(q31.3-q33) karyotipi belirlendi. Analizlerin sonucunda, vakanın eşinde normal genotip saptandı. Vaka kromozom 4 ve kromozom 13 arasında, bantlarındaki kırılma noktaları der(4) monozomi 4qter àq31.3, trizomi 13qà33qter, ve der(13) trizomi 4qteràq31.3, monozomi13qà33qter olan dengeli bir translokasyona sahipti. Tartışma: Vakada fenotipik olarak herhangi bir anomali olmamasına rağmen eşinde habituel abortuslar gözleniyordu. Bu taşıyıcı ailedeki düşüklerin gamet oluşumu sırasında translokasyonun dengesiz bir şekilde (46,XY/46,XX, monozomi 4qteràq31.3, trizomi 13qà33qter veya 46,XY/46,XX,der(13) trizomi 4qteràq31.3, monozomi 13qà33qter) gametlere geçişiyle olabileceği kanısına varıldı. Bu aileye daha sonraki gebelikleri için prenatal tanı önerildi.

Anahtar Kelimeler

• Dengeli translokasyon (4;13), habitüel abortus, monozomi, trizomi, 4qteràq31.3, 13qà33qter.

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