Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies

Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. Using a genomic microarray, the authors analyzed DNA from 25 patients with radiographically confirmed callosal anomalies and identified three patients with de novo copy number changes in chromosome regi...

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Veröffentlicht in:Neurology 2005-11, Vol.65 (9), p.1496-1498
Hauptverfasser: SHERR, E. H, OWEN, R, WAKAHIRO, M, BARKOVICH, A. J, ALBERTSON, D. G, PINKEL, D, COTTER, P. D, SLAVOTINEK, A. M, HETTS, S. W, JEREMY, R. J, SCHILMOELLER, G, SCHILMOELLER, K
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Sprache:eng
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Zusammenfassung:Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. Using a genomic microarray, the authors analyzed DNA from 25 patients with radiographically confirmed callosal anomalies and identified three patients with de novo copy number changes in chromosome regions 2q37, 6qter, and 8p. Chromosomal deletions and duplications may be a relatively common cause of cerebral malformations.
ISSN:0028-3878
1526-632X
DOI:10.1212/01.wnl.0000183066.09239.b6