Ring Chromosome 13, A Rare Case Report

Selda ŞİMŞEK; Diclehan ORAL; İlyas YÜCEL

Article Details

Ring Chromosome 13, A Rare Case Report

Authors:

Selda ŞİMŞEK | Diclehan ORAL | İlyas YÜCEL

Publisher:

Dicle University

Main Topics:

Promotion of health

Journal:

Dicle Medical Journal 2020 Vol.47 Issue 2, pp.482-491

Document Type:

Article

Publication Date:

6/2020

Document Language:

English

Document ID (Org No.):

2000946463

Frequency:

Quarterly

eISSN:

1308-9889

pISSN:

1300-2945

Keywords:

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.

Article Details

Ring Chromosome 13, A Rare Case Report

Authors:

Selda ŞİMŞEK | Diclehan ORAL | İlyas YÜCEL

Publisher:

Dicle University

Main Topics:

Promotion of health

Journal:

Dicle Medical Journal 2020 Vol.47 Issue 2, pp.482-491

Document Type:

Article

Publication Date:

6/2020

Document Language:

English

Document ID (Org No.):

2000946463

Frequency:

Quarterly

eISSN:

1308-9889

pISSN:

1300-2945

13q deletion

Ring chromosome 13

Issues

Article Details

Ring Chromosome 13, A Rare Case Report

Authors: Selda ŞİMŞEK | Diclehan ORAL | İlyas YÜCEL

Publisher: Dicle University

Main Topics: Promotion of health

Journal: Dicle Medical Journal 2020 Vol.47 Issue 2, pp.482-491

Document Type: Article

Publication Date: 6/2020

Document Language: English

Document ID (Org No.): 2000946463

Frequency: Quarterly

eISSN: 1308-9889

pISSN: 1300-2945

13q deletion

Ring chromosome 13

Issues

Authors:

Selda ŞİMŞEK | Diclehan ORAL | İlyas YÜCEL

Publisher:

Dicle University

Main Topics:

Promotion of health

Journal:

Dicle Medical Journal 2020 Vol.47 Issue 2, pp.482-491

Document Type:

Article

Publication Date:

6/2020

Document Language:

English

Document ID (Org No.):

2000946463

Frequency:

Quarterly

eISSN:

1308-9889

pISSN:

1300-2945