Open AccessA case report of ring chromosome 18 with tetralogy of fallot
Author(s) -
Negar Sajjadian,
Herman Moghadam Kambiz
Publication year - 2019
Publication title -
innovative journal of medical and health science
Language(s) - English
Resource type - Journals
eISSN - 2589-9341
pISSN - 2277-4939
DOI - 10.15520/ijmhs.v9i3.2492
Subject(s) - tetralogy of fallot , ring chromosome , chromosome , ring (chemistry) , girl , chromosome analysis , chromosomal translocation , karyotype , medicine , genetics , pediatrics , biology , chemistry , heart disease , gene , organic chemistry
Background: Ring Chromosome 18 is a rare chromosomal disorder with loss of geneticmaterial from one or both ends of the 18th chromosome and fusion of the chromosomalends to form a ring. Associated symptoms and physical features may beextremely variable.Case report: we observed a 2.5 year old girl with the features typical for r(18)carriers additionally manifested a Tetralogy of fallot. Chromosomal analysis on thebasis of G-banding technique was performed. Chromosomal investigation appeared as46, XY,r(18) (p11.31q22.3).Conclusion: This information may help healthcare team make diagnosis a personwith ring 18.