Mehmet ELBİSTAN, Tural ŞENGÜL, Nurten KARA, Nevin KARAKUŞ, Davut GÜVEN

PERİSENTRİK İNVERSİYON 9 GÖZLENEN OLGULARIN DEĞERLENDİRİLMESİ

İnversiyon 9, genellikle fenotipik özellik göstermeyen önemli bir yapısal düzensizlik olarak görülmektedir. Çalışma, inversiyon 9’un etkilerini ve önemini değerlendirmek amacıyla laboratuvarımızda saptanan 62 inversiyon 9 olgusu üzerinde yapılmıştır. Çalışmamızda Ondokuz Mayıs Üniversitesi Tıp Fakültesi Tıbbi Biyoloji Anabilim Dalı, Tıbbi Genetik Bilim Dalı sitogenetik laboratuvarında 2000-2010 yılları arasında sitogenetik analizi yapılan 4131 olgudan karyotipinde perisentrik inversiyon saptanan 62 olgu değerlendirmeye alınmıştır. Karyotip analizi periferik kan lenfositlerinden standart yöntemle yapılmıştır. Her hasta için GTG (tripsin giemsa G-bantlama) ve C (sentromer) bantlama yöntemiyle hazırlanmış 20 metafaz incelenmiştir. Altmış iki olguda perisentrik inversiyon 9 saptandı. Altmış iki inv (9) olgusundan 27’si (% 43.5), tekrarlayan düşüğü olanlarda, 17’si (% 27,4) amniyosentez yapılanlarda, dört’ü (% 6.45) konjenital anomalilerde, iki’si (% 3.22) gelişme ve mental geriliği olanlarda, 2’si (% 3.22) primer ve sekonder amenorelilerde, üç’ü (% 4.83) cinsiyet anomalilerde ve 3’ü (% 4.83) düşük materyallerinde gözlendi. Sonuçta, inversiyon 9 taşıyıcılarının dengesiz gametler oluşturması nedeniyle sıklıkla tekrarlayan düşüklere neden olduğu görüldü. Bununla birlikte, inversiyon 9’un, konjenital anomaliler, amenore, gelişim ve mental geriliği olanlarda gözlenmesi, inversiyonun kromozomun hangi kırık noktalarında oluştuğunun önemini göstermiştir

Anahtar Kelimeler:

fenotip, inv(9), perisentrik inversiyon, sitogenetik

Evaluation of Cases with Inversion 9

Inversion 9 is generally accepted an important structural chromosomal rearrangement that does not generally reflect any phenotypic evidence. In this study we evaluated the significance and influences of inversion 9 on 62 cases inversion 9 determined in laboratuary. In our study, of 4131 cases analysed for cytogenetic analysis, 62 were evaluated since they had been detected to have inversion 9 in their karyotypes, in Department of Medical Biology, Division of Medical Genetics between 2000 and 2010. The karyotype analyses of 62 cases were made from peripheral blood lymphocytes by standard method. Twenty metaphases prepaed by GTG and C banding were examined for each patient. Inv (9) was detected in 62 cases. Sixty two cases with inversion 9 were detected in 27(43.5%) cases with recurrent miscarriages, in 17 (27.4) cases who were advised amniosynthesis, in four (6.45%) cases with congenital anomalies, in three (4.83%) cases who had abortion, in two (3.22%) cases with primer/secondary amenorrhea and in two (3.22%) cases with mental retardation respectively. The significance of the inversion 9 was discussed in view of the literature. It was shown that carriers of inversion 9 have frequently recurrent miscarriages because of forming unbalanced gametes. However, observation of inversion 9 in congenital anomaly, amenorrhea, development and mental retardation cases showed the importance of inversion’s breakpoints

Keywords:

cytogenetics, inv(9), pericentric Inversion, phenotype,

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