Advanced Search
Korean J Pediatr 2012 December;55(12) :487-490.
Published online 2012 September 03.        doi:
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:
Copyright © 2012 by The Korean Pediatric Society
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
1. Buckton KE, O'Riordan ML, Ratcliffe S, Slight J, Mitchell M, McBeath S, et al. A G-band study of chromosomes in liveborn infants. Ann Hum Genet 1980;43:227–239.
2. Buckton KE, Spowart G, Newton MS, Evans HJ. Forty four probands with an additional "marker" chromosome. Hum Genet 1985;69:353–370.
3. Liang JS, Shimojima K, Yamamoto T. Application of array-based comparative genome hybridization in children with developmental delay or mental retardation. Pediatr Neonatol 2008;49:213–217.
4. Thuresson AC, Bondeson ML, Edeby C, Ellis P, Langford C, Dumanski JP, et al. Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation. Cytogenet Genome Res 2007;118:1–7.
5. Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, et al. 15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH. Clin Genet 2006;69:124–134.
6. Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet J Rare Dis 2008;3:30.
7. Bingham PM, Spinner NB, Sovinsky L, Zackai EH, Chance PF. Infantile spasms associated with proximal duplication of chromosome 15q. Pediatr Neurol 1996;15:163–165.
8. Takeda Y, Baba A, Nakamura F, Ito M, Honma H, Koyama T. Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15. Seizure 2000;9:145–150.
9. Chifari R, Guerrini R, Pierluigi M, Cavani S, Sgro V, Elia M, et al. Mild generalized epilepsy and developmental disorder associated with large inv dup(15). Epilepsia 2002;43:1096–1100.
10. Michelson M, Eden A, Vinkler C, Leshinsky-Silver E, Kremer U, Lerman-Sagie T, et al. Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother. Eur J Paediatr Neurol 2011;15:230–233.
11. Webb T, Hardy CA, King M, Watkiss E, Mitchell C, Cole T. A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes. Clin Genet 1998;53:34–43.
12. Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, et al. The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology 1997;48:1081–1086.
13. Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS. Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q Am J Med Genet A 2006;140:434–441.
14. Wang NJ, Liu D, Parokonny AS, Schanen NC. High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. Am J Hum Genet 2004;75:267–281.
15. Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, et al. BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications. J Med Genet 2004;41:175–182.
16. Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, et al. Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet 2008;82:1249–1261.
17. Nakatsu Y, Tyndale RF, DeLorey TM, Durham-Pierre D, Gardner JM, McDanel HJ, et al. A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus. Nature 1993;364:448–450.
18. van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 2009;46:511–523.
19. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008;40:322–328.
20. Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, et al. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?. Hum Mutat 2010;31:840–850.
PDF Links  PDF Links
Full text via DOI  Full text via DOI
  via Pubmed
Full text via PMC  Full text via PMC
via Pubreader  via PubReader
Download Citation  Download Citation
Supplementary Material  Supplementary Material
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay  2016 January;59(1)
Metabolic evaluation of children with global developmental delay  2015 April;58(4)
A case of Hashimoto`s encephalopathy presenting with seizures and psychosis  2012 March;55(3)
A case of mosaic ring chromosome 13 syndrome  2009 February;52(2)
Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay  2008 April;51(4)
Register for e-submission
Register here to access the e-submission system of Korean J Pediatr for authors and reviewers.
Manuscript Submission
To submit a manuscript, please visit the Korean J Pediatr e-submission management system at, read the Instructions for Authors, and log into the Korean J Pediatr e-submission system. For assistance with manuscript submission, please contact:
Free archive
Anyone may access any past or current articles without logging in.
Korean Pediatric Society Office
#1606, Seocho World Officetel, 19 Seoun-ro, Seocho-gu, Seoul 137-070, Korea
TEL : +82-2-3473-7305    FAX : +82-2-3473-7307   E-mail:
BrowseCurrent IssueFor Authors and ReviewersAbout
Copyright© The Korean Pediatric Society. All right reserved.