Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report
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 mil...
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| Format: | Article |
| Language: | English |
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Manipal College of Medical Sciences, Pokhara
2012-04-01
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| Series: | Asian Journal of Medical Sciences |
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| Online Access: | https://www.nepjol.info/index.php/AJMS/article/view/5607 |
| _version_ | 1818385344506101760 |
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| author | A Radha Rama Devi |
| author_facet | A Radha Rama Devi |
| author_sort | A Radha Rama Devi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T03:36:40Z |
| format | Article |
| id | doaj.art-1b5ff9fbe7bb4e2ab1b3515471dd5fc2 |
| institution | Directory Open Access Journal |
| issn | 2467-9100 2091-0576 |
| language | English |
| last_indexed | 2024-12-14T03:36:40Z |
| publishDate | 2012-04-01 |
| publisher | Manipal College of Medical Sciences, Pokhara |
| record_format | Article |
| series | Asian Journal of Medical Sciences |
| spelling | doaj.art-1b5ff9fbe7bb4e2ab1b3515471dd5fc22022-12-21T23:18:36ZengManipal College of Medical Sciences, PokharaAsian Journal of Medical Sciences2467-91002091-05762012-04-0123141144https://doi.org/10.3126/ajms.v2i3.5607Ring Chromosome 20 Associated with Refractory Epilepsy: A Case ReportA Radha Rama Devi 0Diagnostics Division center for DNA Fingerprinting and DiagnosticsRing 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.https://www.nepjol.info/index.php/AJMS/article/view/5607ring chromosome 20epilepsyelectroencephalogrambehavioral problems |
| spellingShingle | A Radha Rama Devi Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report Asian Journal of Medical Sciences ring chromosome 20 epilepsy electroencephalogram behavioral problems |
| title | Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report |
| title_full | Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report |
| title_fullStr | Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report |
| title_full_unstemmed | Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report |
| title_short | Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report |
| title_sort | ring chromosome 20 associated with refractory epilepsy a case report |
| topic | ring chromosome 20 epilepsy electroencephalogram behavioral problems |
| url | https://www.nepjol.info/index.php/AJMS/article/view/5607 |
| work_keys_str_mv | AT aradharamadevi ringchromosome20associatedwithrefractoryepilepsyacasereport |