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

被引：42

作者：

Sherr, EH

Owen, R

Albertson, DG

Pinkel, D

Cotter, PD

Slavotinek, AM

Hetts, SW

Jeremy, RJ

Schilmoeller, G

Schilmoeller, K

Wakahiro, M

Barkovich, AJ

机构：

[1] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA

[2] Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA

[3] Univ Calif San Francisco, Inst Canc Res, San Francisco, CA 94143 USA

[4] Univ Calif San Francisco, Dept Lab Med, San Francisco, CA 94143 USA

[5] Univ Calif San Francisco, Dept Radiol, San Francisco, CA 94143 USA

[6] Childrens Hosp Oakland, Oakland, CA USA

[7] Univ Maine, Orono, ME USA

来源：

NEUROLOGY | 2005年 / 65卷 / 09期

关键词：

D O I：

10.1212/01.wnl.0000183066.09239.b6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

收藏

页码：1496 / 1498

页数：3

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