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A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy  

Jung, Yeon Kyung (Department of Pediatrics, School of Medicine, Catholic University of Daegu)
Lee, Gyeong Hoon (Department of Pediatrics, School of Medicine, Catholic University of Daegu)
Publication Information
Clinical and Experimental Pediatrics / v.48, no.1, 2005 , pp. 108-111 More about this Journal
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;
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