Diclehan ORAL, M. Nail ALP, Alpaslan Kemal TUZCU, Hilmi İSİ

46,XY,t(8;20)(q2;q13 ) kromozom kuruluşlu marfan sendromu olgusu

Marfan sendromu iskelet, oküler ve kardiyovasküler sistemi etkileyen otozomal dominant geçişli kalıtsal bir hastalıktır. Hasta Endokrinoloji Biriminde klinik olarak Marfan sendromu tanısı almıştı. Marfan ön tanısı ile Tibbi Biyoloji Genetik Laboratuvarına gönderilen olguya kromozom analizi uygulandı. Kromozom analizi için periferik kan kültürü uygulandı. Hazırlanan preparatlar giemsa boyama tekniği ( GTG ) ile boyanarak 25 hücre sayıldı. 20 metafazda karyotip yapıldı ve hastada 46,XY,t(8;20)(q2;q13) karyotipi saptandı. Anne ve babada yapılan kromozom analiz sonucu normal karyotip saptandığından olgudaki translokasyonun de novo olduğu kanısına varıldı.

Anahtar Kelimeler:

Anomaliler, çoklu, Karyotipleme, Marfan sendromu, Soyağacı, Translokasyon, genetik

A marfan syndrome case of 46,XY,(8;20)(q2;q13) chromosome structure

The Marfan syndrome is an inherited, autosomal dominant disorder that affects the skeletal, ocular and cardiovascular systems. The patient had clinical diagnosis of Marfan syndrome in the Department of Endocrinology. Chromosome analysis was performed on a case referred to Genetic Laboratory of Medical Biology Department with pre-diagnosis of Marfan syndrome. For chromosome analysis, peripheral blood culture was performed. The preparates were stained by Giemsa Technique (GTG), and 25 cells were counted. Twenty metaphase chromosomes were karyotyped, and 46,XY,t(8;20)(q2;q13) karyotype was identified in the case . As a result of analysis, his parents were found to have normal karyotype, thus, it was concluded that the translocation in our case is de novo.

Keywords:

Abnormalities, Multiple, Karyotyping, Marfan Syndrome, Pedigree, Translocation, Genetic,

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