Olgu Sunumu
BibTex RIS Kaynak Göster

Ring Chromosome 13, A Rare Case Report

Yıl 2020, , 482 - 491, 17.06.2020

Selda Şimşek Diclehan Oral İlyas Yücel

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

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.
Toplam 5 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Kurumları Yönetimi
Bölüm Olgu Sunumları
Yazarlar

Selda Şimşek Bu kişi benim

Diclehan Oral Bu kişi benim

İlyas Yücel Bu kişi benim

Yayımlanma Tarihi 17 Haziran 2020
Gönderilme Tarihi 13 Şubat 2020
Yayımlandığı Sayı Yıl 2020

Kaynak Göster

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. Haziran 2020;47(2):482-491. doi:10.5798/dicletip.755783
Chicago Şimşek, Selda, Diclehan Oral, ve İlyas Yücel. “Ring Chromosome 13, A Rare Case Report”. Dicle Tıp Dergisi 47, sy. 2 (Haziran 2020): 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 Tıp Dergisi 47 2 482–491.
IEEE S. Şimşek, D. Oral, ve İ. Yücel, “Ring Chromosome 13, A Rare Case Report”, diclemedj, c. 47, sy. 2, ss. 482–491, 2020, doi: 10.5798/dicletip.755783.
ISNAD Şimşek, Selda vd. “Ring Chromosome 13, A Rare Case Report”. Dicle Tıp Dergisi 47/2 (Haziran 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 vd. “Ring Chromosome 13, A Rare Case Report”. Dicle Tıp Dergisi, c. 47, sy. 2, 2020, ss. 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.