Abstract
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.
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