Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13

被引：53

作者：

Gurrieri, F

Battaglia, A

Torrisi, L

Tancredi, R

Cavallaro, C

Sangiorgi, E

Neri, G

机构：

[1] Univ Cattolica Sacro Cuore, Ist Genet Med, Sch Med, I-00168 Rome, Italy

[2] Associaz Anni verdi, Ctr Ric Disabil Mentale & Motoria, Rome, Italy

[3] Univ Pisa, Div Child Neurol & Psychiat, Stella Maris Sci Res Inst, Pisa, Italy

来源：

NEUROLOGY | 1999年 / 52卷 / 08期

关键词：

D O I：

10.1212/WNL.52.8.1694

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Duplications of chromosome 15 have been reported in individuals with atypical autism, varying degrees of mental retardation, and epilepsy. The authors report the molecular analysis, neurophysiologic, and clinical evaluation of a 12-year-old boy with atypical autism and epilepsy due to a maternally derived 15q11-q13 duplication. Their findings suggest that this chromosomal region harbors genes for autism and possibly for partial epilepsy that may act in a dose-dependent manner.

引用

页码：1694 / 1697

页数：4

共 11 条

[1]

Bailey A, 1998, HUM MOL GENET, V7, P571

[2] Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations [J].