Ring Chromosome 13, A Rare Case Report

Yıl 2020, Cilt: 47 Sayı: 2, 482 - 491, 17.06.2020

Selda Şimşek Diclehan Oral İlyas Yücel

https://doi.org/10.5798/dicletip.755783

Öz

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 first case of ring chromosome 13 cytogenetic alteration observed in our laboratory at Dicle University, Turkey. Her chromosomal composition was 46,XX,r(13). FISH (Fluorescence InSitu Hybridization) also confirmed the presence of r(13). A chromosomal microarray analysis using a CytoScan® Optima assay (Affymetrix) detected a 6.3 Mb deletion at 13q33.3q34. This rare case presented the first r(13) cytogenetic alteration detected in our laboratory.

Anahtar Kelimeler

13q deletion, Ring chromosome 13

Kaynakça

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