Nilgün TANRIVERDİ, Ayfer PAZARBAŞI, Dilara KARAHAN, Ayşe AVCI, Ayşegül Yolga TAHİROĞLU, Erdal TUNÇ, Osman DEMİRHAN

10. kromozomdaki perisentrik inversiyonun agresif davranış ve hiperaktivite üzerine etkisi

Agresif davranış ve hiperaktivite, nedeni ve patogenezi bilinmeyen genetik nörogelişimsel hastalıklardır. Perisentrik inv(10)(p11.2;q21.2) mutasyonu sitogenetik laboratuarlarında sıklıkla tanımlanmaktadır. Bu olgu fenotipik olarak sessizdir ve polimorfik bir varyant olduğu düşünülmektedir ancak bazı hastalarda otizm gibi nörogelişimsel hastalıklarla ilişkilendirilmiştir. Bir erkek çocuğunun, G-bantlama boya tekniği kullanılarak karyotip incelemesi yapıldı. Bu çalışmada; gelişme geriliği, mental motor retardasyonu, dikkat eksikliği ve hiperaktivite hastalığı olan bir erkek çocuğunun klinik ve sitogenetik bulguları rapor edildi. Kromozom analizi sonucunda, 10. kromozomun p11.1 ve q22.1 bantları arasındaki bölgeyi kapsayan geniş bir perisentrik inversiyon saptandı. Probandın anne, baba ve kardeşlerinin karyotiplerinin normal olduğu bulundu. Bulgumuz, inv(10)"un davranış bozukluğu hastalıkları ile ilişkili olabileceğini düşündürmektedir. Bununla birlikte, moleküler çalışmalar, hastalığın patogenezine dahil olan 10p-q kritik bölgesinde yer alan genlerin bulunmasına ve hastalığın daha iyi tanımlanmasına yardımcı olacaktır.

Anahtar Kelimeler:

Perisentrik inversiyon, Kromozom 10p-q, Agresif davranış, Hiperaktiflik, Mental retardasyon.

The influence of pericentric inversion in 10th chromosome on aggressive behavior and hyperactivity

Aggressive behavior and hyperactivity are neurodevelopmental diseases with unknown pathogenesis. Pericentric inv(10)(p11.2;q21.2) mutation is frequently encountered in cytogenetic laboratories. This mutation is accepted as a polymorphic variant and is phenotypically silent, but in some cases it has been associated with neurodevelopmental diseases like autism. After blood culturing, standard chromosome obtaining procedure was applied to patients. In this study, clinical and cytogenetical findings of a boy with developmental delay, mental and motor retardation, attention deficit and hyperactivity have been reported. As a result of chromosome analysis, on chromosome 10, a large pericentric inversion between p11.1 and q22.q bands has been found. Karyotype analysis was also performed to mother, father and siblings of the patient and they have been found to have normal karyotype. It is plausible to consider a relation between inv(10) and some behavioral problems. Additionally, molecular studies targeting 10p-q critical region will be more informative for the true identification of this disease.

Keywords:

Pericentric inversion, Chromosome 10p-q, Aggressive behavior, Hyperactivity, Mental retardation.,

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Yazışma Adresi / Address for Correspondence: Dr. Ayfer Pazarbaşı Çukurova Üniversitesi Tıp Fakültesi Tıbbi Biyoloji ve Genetik Anabilim Dalı Balcalı/ ADANA Tel: 0 322 3387068 e-mail: payfer@cu.edu.tr geliş tarihi/received :24.09.2012 kabul tarihi/accepted:,17.10.2012