Ring Chromosome 13, A Rare Case Report

Selda Şimşek; Diclehan Oral; İlyas Yücel

doi:10.5798/dicletip.755783

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 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.

Keywords

13q deletion,Ring chromosome 13

References

1. Nussbaum RL. Thompson and Thompson Genetics in Medicine. Six edition, WB. Saunders Company, 2001: 172-5.
2. Minasi LB, IPinto IP, Almeida J, et al. Postnataldiagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches. Genetics and Molecular Research 2015; 14: 1692-9.
3. Türkyılmaz A, Oral D, Şimşek S, et al. De Novo dengeli 18pter delesyonlu olgu sunumu A casewithdeletion of De Novobalanced 18pter. Dicle Tıp Derg. 2009; 36: 316-8.
4. Wang HC, Melnyk J, McDonald LT, et al. Ring chromosomes in human beings. Nature. 1962; 195: 733-4.
5. Martin NJ, Harvey PJ, Pearn JH. The Ring Chromosome 13 Syndrome. Hum Genet. 1982; 61: 18-23.

Details

Primary Language

English

Subjects

Health Care Administration

Journal Section

Case Report

Authors

Selda Şimşek ^* This is me
Türkiye

Diclehan Oral This is me
Türkiye

İlyas Yücel This is me
Türkiye

Publication Date

June 17, 2020

Submission Date

February 13, 2020

Acceptance Date

May 27, 2020

Published in Issue

Year 2020 Volume: 47 Number: 2

DOI

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

IZ

https://izlik.org/JA26GC57XC

Cite

RIS / Bibtex

APA

Şimşek, S., Oral, D., & Yücel, İ. (2020). Ring Chromosome 13, A Rare Case Report. Dicle Medical Journal, 47(2), 482-491. https://doi.org/10.5798/dicletip.755783

AMA

1.Şimşek S, Oral D, Yücel İ. Ring Chromosome 13, A Rare Case Report. Dicle Medical Journal. 2020;47(2):482-491. doi:10.5798/dicletip.755783

Chicago

Şimşek, Selda, Diclehan Oral, and İlyas Yücel. 2020. “Ring Chromosome 13, A Rare Case Report”. Dicle Medical Journal 47 (2): 482-91. https://doi.org/10.5798/dicletip.755783.

EndNote

Şimşek S, Oral D, Yücel İ (June 1, 2020) Ring Chromosome 13, A Rare Case Report. Dicle Medical Journal 47 2 482–491.

IEEE

[1]S. Şimşek, D. Oral, and İ. Yücel, “Ring Chromosome 13, A Rare Case Report”, Dicle Medical Journal, vol. 47, no. 2, pp. 482–491, June 2020, doi: 10.5798/dicletip.755783.

ISNAD

Şimşek, Selda - Oral, Diclehan - Yücel, İlyas. “Ring Chromosome 13, A Rare Case Report”. Dicle Medical Journal 47/2 (June 1, 2020): 482-491. https://doi.org/10.5798/dicletip.755783.

JAMA

1.Şimşek S, Oral D, Yücel İ. Ring Chromosome 13, A Rare Case Report. Dicle Medical Journal. 2020;47:482–491.

MLA

Şimşek, Selda, et al. “Ring Chromosome 13, A Rare Case Report”. Dicle Medical Journal, vol. 47, no. 2, June 2020, pp. 482-91, doi:10.5798/dicletip.755783.

Vancouver

1.Selda Şimşek, Diclehan Oral, İlyas Yücel. Ring Chromosome 13, A Rare Case Report. Dicle Medical Journal. 2020 Jun. 1;47(2):482-91. doi:10.5798/dicletip.755783