title: A case of isodicentric chromosome 15 presented with epilepsy and developmental delay.
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.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jon Soo
authors.initials: JS
authors.lastname: Kim
authors.forename: Jinyu
authors.initials: J
authors.lastname: Park
authors.forename: Byung-Joo
authors.initials: BJ
authors.lastname: Min
authors.forename: Sun Kyung
authors.initials: SK
authors.lastname: Oh
authors.forename: Jin Sun
authors.initials: JS
authors.lastname: Choi
authors.forename: Mi Jung
authors.initials: MJ
authors.lastname: Woo
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Chae
authors.forename: Ki Joong
authors.initials: KJ
authors.lastname: Kim
authors.forename: Yong Seung
authors.initials: YS
authors.lastname: Hwang
authors.forename: Byung Chan
authors.initials: BC
authors.lastname: Lim
keywords: Array comparative genomic hybridization analysis; Isodicentric chromosome 15; Supernumerary marker chromosome