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

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

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.

Ayrıntılar

Birincil Dil

İngilizce

Konular

Sağlık Kurumları Yönetimi

Bölüm

Olgu Sunumu

Yazarlar

Selda Şimşek ^* Bu kişi benim
Türkiye

Diclehan Oral Bu kişi benim
Türkiye

İlyas Yücel Bu kişi benim
Türkiye

Yayımlanma Tarihi

17 Haziran 2020

Gönderilme Tarihi

13 Şubat 2020

Kabul Tarihi

27 Mayıs 2020

Yayımlandığı Sayı

Yıl 2020 Cilt: 47 Sayı: 2

DOI

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

IZ

https://izlik.org/JA26GC57XC

Kaynak Göster

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. diclemedj. 2020;47(2):482-491. doi:10.5798/dicletip.755783

Chicago

Şimşek, Selda, Diclehan Oral, ve 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 (01 Haziran 2020) Ring Chromosome 13, A Rare Case Report. Dicle Medical Journal 47 2 482–491.

IEEE

[1]S. Şimşek, D. Oral, ve İ. Yücel, “Ring Chromosome 13, A Rare Case Report”, diclemedj, c. 47, sy 2, ss. 482–491, Haz. 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 (01 Haziran 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. diclemedj. 2020;47:482–491.

MLA

Şimşek, Selda, vd. “Ring Chromosome 13, A Rare Case Report”. Dicle Medical Journal, c. 47, sy 2, Haziran 2020, ss. 482-91, doi:10.5798/dicletip.755783.

Vancouver

1.Selda Şimşek, Diclehan Oral, İlyas Yücel. Ring Chromosome 13, A Rare Case Report. diclemedj. 01 Haziran 2020;47(2):482-91. doi:10.5798/dicletip.755783