International Journal of Molecular and Cellular Medicine (IJMCM)
Cellular and Molecular Biology Research Center, Babol University of Medical Sciences
Wed, Dec 11, 2024
[Archive]
Volume 3, Issue 4 (Int J Mol Cell Med 2014)
Int J Mol Cell Med 2014, 3(4): 287-289 |
Back to browse issues page
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Heydari S, Hassanzadeh F, Hassanzadeh Nazarabadi M. Ring Chromosome 18: A Case Report. Int J Mol Cell Med 2014; 3 (4) :287-289
URL: http://ijmcmed.org/article-1-215-en.html
URL: http://ijmcmed.org/article-1-215-en.html
1- Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
2- Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. ,NazarabadiM@mums.ac.ir
2- Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. ,
Abstract: (9383 Views)
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformations, hypotonia and other skeletal abnormalities. Here we report a 2.5 years old patient with a cleft lip, club foot, mental retardation and cryptorchidism. Chromosomal analysis on the basis of G-banding technique was performed following patient referral to the cytogenetic laboratory. Chromosomal investigation appeared as 46, XY, r(18) (p11.32 q21.32). According to the clinical features of such patients, chromosome investigation is strongly recommended.
Type of Study: Case Report |
Subject:
Genetics & Disease
Received: 2014/08/21 | Accepted: 2014/09/9 | Published: 2014/09/17
Received: 2014/08/21 | Accepted: 2014/09/9 | Published: 2014/09/17
Send email to the article author
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
