| A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy |
|
Yeon Kyung Jung, Gyeong Hoon Lee |
|
Department of Pediatrics, School of Medicine, Catholic University of Daegu, Daegu, Korea |
| 정신 지체와 간질을 동반한 20 환(Ring) 염색체 증후군 1례 |
|
정연경, 이경훈 |
|
대구가톨릭대학교 의과대학 소아과학교실 |
Correspondence:
Gyeong Hoon 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 |
| Key Words:
Ring chromosome 20, Epilepsy, Mental retardation |
|
PDF Links
Download Citation
