Sedat ŞİMŞEK, Edip ÜNAL, Diclehan ORAL, İlyas YÜCEL, Selahaddin TEKEŞ

Ring Chromosome 13, Nadir Bir Olgu Raporu

Bu olgu sunumunda de-novo ring kromozom 13 [r(13)] tespit edilen bir çocuk hastanın sitogenetik ve moleküler açıdan sonuçları değerlendirilmiştir. Hasta kısa boy, büyüme geriliği ve Turner sendromu ön tanısı ile laboratuvarımıza yönlendirilmiştir. Yapılan kromozom analizi sonucu 46, XX, r (13) kromozom kuruluşu tespit edilen hastaya FISH (Floresan InSitu Hibridizasyonu) analizi yapılarak r (13) varlığı teyit edilmiştir. CytoScan® Optima testi (Affymetrix) kullanılarak yapılan kromozomal mikro dizin analizi sonucunda 13q33.3q34'te 6.3 Mb'lik bir delesyon saptanmıştır. Bu nadir olgu, laboratuvarımızda saptanan ilk r (13) sitogenetik değişiklik olması nedeni ile önemlidir.

Ring Chromosome 13, A Rare Case Report

This case report describes the cytogenetic and molecular characterization of a child with de-novo ring chromosome 13[r(13)]. The child presented with short stature, growth retardation and a Turner syndrome diagnosis. She was the firstcase of ring chromosome 13 cytogenetic alteration observed in our laboratory at Dicle University, Turkey. Herchromosomal composition was 46,XX,r(13). FISH (Fluorescence InSitu Hybridization) also confirmed the presence ofr(13). A chromosomal microarray analysis using a CytoScan® Optima assay (Affymetrix) detected a 6.3 Mb deletion at13q33.3q34. This rare case presented the first r(13) cytogenetic alteration detected in our laboratory

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