Periventricular heterotopia associated with chromosome 5p anomalies

被引：81

作者：

Sheen, VL

Wheless, JW

Bodell, A

Braverman, E

Cotter, PD

Rauen, KA

Glenn, O

Weisiger, K

Packman, S

Walsh, CA

Sherr, EH

机构：

[1] Harvard Univ, Beth Israel Deaconess Med Ctr, Inst Med, Div Neurogenet,Dept Neurol, Boston, MA 02215 USA

[2] Univ Texas, Dept Neurol, Houston, TX USA

[3] Harvard Univ, Sch Med, Program Biol & Biomed Sci, Boston, MA USA

[4] Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA

[5] Childrens Hosp Oakland, Div Med Genet, Oakland, CA USA

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

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

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

来源：

NEUROLOGY | 2003年 / 60卷 / 06期

关键词：

D O I：

10.1212/01.WNL.0000052689.03214.61

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles. Whereas mutations in X-linked FLNA cause such cortical malformations, the authors report two cases of PH localizing to chromosome 5p. Both subjects have complex partial seizures. MRI demonstrated bilateral nodular PH, with subcortical heterotopia or focal gliosis. FISH identified a duplication of 5p15.1 [46,XX,dup(5)(p15.1p15.1)] and a trisomy of 5p15.33 [46,XYder(14)t(5; 14)(p15.33;p11.2) mat]. These findings suggest a new PH locus along the telomeric end of chromosome 5p.

引用

页码：1033 / 1036

页数：4

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