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- Title
A 2.3?Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.
- Authors
Bonaglia, Maria Clara; Giorda, Roberto; Tenconi, Romano; Pessina, Marco; Pramparo, Tiziano; Borgatti, Renato; Zuffardi, Orsetta
- Abstract
Chromosome duplications are found in about 2%of subjects with a typical chromosomal phenotype but their frequency is likely to be higher, as suggested by the first array-CGH data. According to the orientation of the duplicated segment, duplications may be in tandem or inverted. The latter are usually associated with a distal deletion. We studied a de novo 2.3?Mb inverted duplication of 8q24.3 without apparently associated deletion in a subject with profound psychomotor retardation, idiopathic epilepsy and growth delay. In spite of its small size, the presence of the rearrangement was suspected on standard karyotypes (approximately 400 bands) and later confirmed by Fluorescent in situ hybridization (FISH) analysis. We hypothesize that the GRINA gene, a glutamate binding subunit of NMDA receptor ion channel lying within the duplicated segment, may be responsible for the epilepsy. This paper confirms that small subtelomeric de novo duplications may be responsible for mental retardation, facial dysmorphisms and/or congenital malformations, although their presence may be overlooked by FISH analysis.European Journal of Human Genetics (2005) 13, 586-591. doi:10.1038/sj.ejhg.5201369 Published online 19 January 2005
- Subjects
INTELLECTUAL disabilities; EPILEPSY; KARYOTYPES; CHROMOSOMES; PHENOTYPES; GENETICS
- Publication
European Journal of Human Genetics, 2005, Vol 13, Issue 5, p586
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201369