Ring Chromosome 13, A Rare Case Report

Abstract

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