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CASE REPORT
Korean J Pediatr 2012 December;55(12) :487-490.
Published online 2012 September 03.        doi:https://doi.org/10.3345/kjp.2012.55.12.487
A case of isodicentric chromosome 15 presented with epilepsy and developmental delay
Jon Soo Kim (Kim JS)1, Jinyu Park (Park JY)1, Byung-Joo Min (Min BJ)2, Sun Kyung Oh (Oh SK)3, Jin Sun Choi (Choi JS)3, Mi Jung Woo (Woo MJ)3, Jong Hee Chae (Chae JH)1, Ki Joong Kim (Kim KJ)1, Yong Seung Hwang (Hwang YS)1, Byung Chan Lim (Lim BC)1
1Department of Pediatrics, Seoul National University Childrens Hospital, Seoul National University College of Medicine, Seoul, Korea
2Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea
3Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University, Seoul, Korea
Corresponding Author: Byung Chan Lim ,Tel: +82-2-2072-2364, Fax: +82-2-743-3455, Email: prabbit7@snu.ac.kr
Copyright © 2012 by The Korean Pediatric Society
ABSTRACT
We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.
Keywords: Supernumerary marker chromosome | Isodicentric chromosome 15 | Array comparative genomic hybridization analysis
 
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