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A case of isodicentric chromosome 15 presented with epilepsy and developmental delay

Jon Soo Kim1, Jinyu Park, Byung-Joo Min

  • 1Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

Korean Journal of Pediatrics
|January 10, 2013
PubMed

Insights

A rare isodicentric chromosome 15 (idic(15)) caused severe epilepsy and developmental delay in an infant. Array-comparative genomic hybridization (CGH) identified the specific chromosomal abnormality, aiding diagnosis.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Epilepsy and global developmental delay are significant pediatric concerns.
  • Chromosomal abnormalities can manifest as complex neurological disorders.
  • Identifying the genetic basis of such conditions is crucial for diagnosis and management.

Purpose of the Study:

  • To report a case of isodicentric chromosome 15 (idic(15)) presenting with severe epilepsy and global developmental delay.
  • To highlight the utility of advanced genetic analysis in diagnosing rare chromosomal disorders.
  • To emphasize the role of array-comparative genomic hybridization (CGH) in identifying supernumerary marker chromosomes.

Main Methods:

  • Case presentation of a 10-month-old female infant with uncontrolled seizures and global developmental delay.
  • Initial investigations included routine karyotyping, which revealed a supernumerary marker chromosome (47, XX +mar).
  • Advanced genetic analyses, including array-comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), were performed to characterize the marker chromosome.

Main Results:

  • Routine karyotyping identified an unknown supernumerary marker chromosome.
  • Array-CGH analysis pinpointed amplification within the 15q11.1 to 15q13.1 region.
  • FISH analysis confirmed the presence of an isodicentric chromosome 15 (idic(15)).

Conclusions:

  • Isodicentric chromosome 15 (idic(15)) is associated with severe epilepsy and global developmental delay.
  • Array-CGH is a valuable tool for determining the origin of unknown supernumerary marker chromosomes.
  • Genetic diagnosis of epilepsy syndromes linked to chromosomal aberrations can be significantly aided by array-CGH.

Keywords:
Array comparative genomic hybridization analysisIsodicentric chromosome 15Supernumerary marker chromosome

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