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

From the Department of Neurology (Dr. Sherr, Ms. Wakahiro), Department of Pediatrics (Drs. Owen, Slavotinek, and Jeremy), Cancer Research Institute (Dr. Albertson), Department of Laboratory Medicine (Dr. Pinkel), Department of Radiology, University of California, San Francisco (Drs. Hetts and Barkovich); Children's Hospital Oakland, California (Dr. Cotter); and University of Maine, Orono (Drs. G. Schilmoeller and K. Schilmoeller).

Address correspondence and reprint requests to Dr. Elliott H. Sherr, Department of Neurology, UCSF, 533 Parnassus Avenue, Box 0748, San Francisco, CA 94143-0748; e-mail: sherre{at}neuropeds.ucsf.edu.

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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the November 8 issue to find the title link for this article.

Supported by funds from the National Institutes of Health (NS01692) and the UCSF academic senate and carried out in part in the Pediatric Clinical Research Center, University of California, San Francisco, with funds provided by the National Center for Research Resources, 5 M01 RR-01271, U.S. Public Health Service.

Disclosure: The authors report no conflicts of interest.

Received May 5, 2005. Accepted in final form August 4, 2005.

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