All issues > Volume 48(1); 2005

Case Report

Korean J Pediatr. 2005;48(1):108-111. Published online January 15, 2005.

A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy

Yeon Kyung YK Jung¹, Gyeong Hoon GH Lee¹

¹Department of Pediatrics, School of Medicine, Catholic University of Daegu, Daegu, Korea

Correspondence Gyeong Hoon GH Lee ,Email: pedkhlee@cu.ac.kr

Abstract

Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of both short and long arms of a chromosome with subsequent end-to- end fusion. We encountered an 18-month-old boy who presented with developmental delay and mental retardation with seizure episodes, but showed normal brain magnetic resonance imaging. Chromosome study from peripheral blood showed 46,XY, r(20)(p13q13.3) karyotype. The authors report a case of ring chromosome 20 with mental retardation and epilepsy, with a review of the literature

Keywords :Ring chromosome 20, Epilepsy, Mental retardation