Akın TEKCAN, Mehmet ELBİSTAN, Nurten KARA, Nevin KARAKUŞ, Şengül TURAL, Davut GÜVEN

46, XY, t(5;8) (q33,2;q22,2) KARYOTİPLİ BİR FETÜS

Bu çalışmada; ileri anne yaşı nedeniyle prenatal tanı amacıyla laboratuvara refere edilen bir kadın olgunun, de novo t(5;8)(q33,2;q22,2) dengeli resiprokal translokasyon taşıyıcısı fetüsünü tartıştık.Olgunun aile öyküsünün değerlendirilmesinin ardından, periferik kan kültürü metodu kullanarak olgu ve aile bireylerinden elde edilen preparatlar GTG bantlama yöntemiyle değerlendirildi.İleri anne yaşı nedeniyle prenatal tanı amacıyla laboratuvara refere edilen kadın olgunun fetüs’ünden yapılan sitogenetik analizler sonucunda, fetüs’ün dengeli resiprokal translokasyon taşıyıcısı olduğu görüldü. Fetüs’ün annesi, babası ve iki kardeşinde yapılan analizlerde; aile bireylerinin normal karyotiplere sahip oldukları görüldü.Saptanan dengeli resiprokal translokasyonun anne yaşı ile ilişkili olarak DNA tamir mekanizmalarında oluşan hata nedeniyle ortaya çıktığı kanaatine varıldı. Bu çalışmada, fetüs’ün genetik özelliklerini literatür ışığında tartıştık.

Anahtar Kelimeler:

Anne yaşı, prenatal tanı, kromozomal translokasyon

A FETUS WITH t(5;8)(q33,2;q22,2) KARYOTYPE

We discussed a fetus with t(5;8)(q33,2;q22,2) balanced reciprocal translocation whose mother referred to the laboratory due to advanced maternal age. Was After assessing the case’s pedigree, the preparations obtained from case and relatives using peripheric blood culture method were evaluated with GTG banding. Cytogenetic analysis of fetus, showed a balanced reciprocal translocation 46,XY, t(5;8)(q33,2;q22,2). Cytogenetic analyses of father, mother and two siblings revealed that the karyotypes of them were normal. We suggested that this balanced reciprocal translocation may be the result of an error of DNA repair mechanisms that may be associated with advanced maternal age. We discussed cytogenetic features of the fetus in the guide of literature

Keywords:

Maternal age, prenatal diagnosis, chromosomal translocation,

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Başlangıç: 1916
Yayıncı: İstanbul Üniversitesi Yayınevi

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