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Case Report

A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy

Yeon Kyung Jung, Gyeong Hoon Lee

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

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...

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