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Ring Chromosome 13, A Rare Case Report

Year 2020, , 482 - 491, 17.06.2020

Selda Şimşek Diclehan Oral İlyas Yücel

https://doi.org/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.

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.

Year 2020, , 482 - 491, 17.06.2020

Selda Şimşek Diclehan Oral İlyas Yücel

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

Abstract

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.
There are 5 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Reports
Authors

Selda Şimşek This is me

Diclehan Oral This is me

İlyas Yücel This is me

Publication Date June 17, 2020
Submission Date February 13, 2020
Published in Issue Year 2020

Cite

APA Şimşek, S., Oral, D., & Yücel, İ. (2020). Ring Chromosome 13, A Rare Case Report. Dicle Tıp Dergisi, 47(2), 482-491. https://doi.org/10.5798/dicletip.755783
AMA Şimşek S, Oral D, Yücel İ. Ring Chromosome 13, A Rare Case Report. diclemedj. June 2020;47(2):482-491. doi:10.5798/dicletip.755783
Chicago Şimşek, Selda, Diclehan Oral, and İlyas Yücel. “Ring Chromosome 13, A Rare Case Report”. Dicle Tıp Dergisi 47, no. 2 (June 2020): 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 Tıp Dergisi 47 2 482–491.
IEEE S. Şimşek, D. Oral, and İ. Yücel, “Ring Chromosome 13, A Rare Case Report”, diclemedj, vol. 47, no. 2, pp. 482–491, 2020, doi: 10.5798/dicletip.755783.
ISNAD Şimşek, Selda et al. “Ring Chromosome 13, A Rare Case Report”. Dicle Tıp Dergisi 47/2 (June 2020), 482-491. https://doi.org/10.5798/dicletip.755783.
JAMA Şimşek S, Oral D, Yücel İ. Ring Chromosome 13, A Rare Case Report. diclemedj. 2020;47:482–491.
MLA Şimşek, Selda et al. “Ring Chromosome 13, A Rare Case Report”. Dicle Tıp Dergisi, vol. 47, no. 2, 2020, pp. 482-91, doi:10.5798/dicletip.755783.
Vancouver Şimşek S, Oral D, Yücel İ. Ring Chromosome 13, A Rare Case Report. diclemedj. 2020;47(2):482-91.