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Ring Chromosome 13, A Rare Case Report
2020
Journal:  
Dicle Tıp Dergisi
Author:  
DOI:  
10.5798/dicletip.755783
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 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.

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2020
Journal:  
Dicle Tıp Dergisi
Author:  
DOI:  
10.5798/dicletip.755783
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Dicle Tıp Dergisi

Field :   Sağlık Bilimleri

Journal Type :   Uluslararası

Metrics
Article : 1.608
Cite : 3.121
2023 Impact : 0.081
Details
Dicle Tıp Dergisi