Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report

Autor:	A Radha Rama Devi
Jazyk:	angličtina
Rok vydání:	2012
Předmět:	ring chromosome 20 epilepsy electroencephalogram behavioral problems Medicine
Zdroj:	Asian Journal of Medical Sciences, Vol 2, Iss 3, Pp 141-144 (2012)
Druh dokumentu:	article
ISSN:	2467-9100 2091-0576
DOI:	10.3126/ajms.v2i3.5607
Popis:	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.
Databáze:	Directory of Open Access Journals
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