Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report

Authors

  • A Radha Rama Devi Diagnostics Division center for DNA Fingerprinting and Diagnostics
  • Usha R Dutta Diagnostics Division center for DNA Fingerprinting and Diagnostics

DOI:

https://doi.org/10.3126/ajms.v2i3.5607

Keywords:

Ring chromosome 20, epilepsy, electroencephalogram, behavioral problems

Abstract

Ring chromosome 20 is a rare chromosomal abnormality characterized mainly by refractory epileptic seizures, cognitive and behavioral problems, and absence of definite dysmorphic features. We report a 5-year-old boy with refractory epilepsy and minimal dysmorphic features who first presented with mild developmental delay at 11 months of age. The karyotype of the child was 46,XY,r(20)(p13q13.3). Till date there are 69 cases of ring chromosome 20 reported in the literature, including mosaics and supernumerary ring chromosomes. To our knowledge, this is the first case of ring chromosome 20 with refractory epilepsy reported from the south Indian population.

DOI: http://dx.doi.org/10.3126/ajms.v2i3.5607

Asian Journal of Medical Sciences 2 (2011) 141-144

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Published

2012-04-24

How to Cite

Devi, A. R. R., & Dutta, U. R. (2012). Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report. Asian Journal of Medical Sciences, 2(3), 141–144. https://doi.org/10.3126/ajms.v2i3.5607

Issue

Vol. 2 No. 3 (2011)

Section

Original Articles

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