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 regions 2q37, 6qter, and 8p. Chromosomal deletions and duplications may be a relatively common cause of cerebral malformations.
Sherr
E H
EH
Department of Neurology, University of California, San Francisco, CA 94143-0748, USA. sherre@neuropeds.ucsf.edu
Owen
R
R
Albertson
D G
DG
Pinkel
D
D
Cotter
P D
PD
Slavotinek
A M
AM
Hetts
S W
SW
Jeremy
R J
RJ
Schilmoeller
G
G
Schilmoeller
K
K
Wakahiro
M
M
Barkovich
A J
AJ
D061085:Agenesis of Corpus Callosum; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003337:Corpus Callosum / Q000503:physiopathology; D004247:DNA / Q000032:analysis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D018628:Gene Dosage; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D015698:Genomic Library; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009421:Nervous System Malformations / Q000150:complications / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D011446:Prospective Studies
D004247:DNA