Partial monosomy Xq(Xq23 → qter) and trisomy 4p(4p15.33 → pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features

被引：11

作者：

Bartocci, Arnaldo ^{[2
]}

Striano, Pasquale ^{[3
,4
]}

Mancardi, Maria Margherita ^{[4
]}

Fichera, Marco ^{[1
]}

Castiglia, Lucia ^{[1
]}

Galesi, Ornella ^{[1
]}

Michelucci, Roberto ^{[5
]}

Elia, Maurizio ^{[1
]}

机构：

[1] IRCCS, Oasi Inst Res Mental Retardat & Brain Aging, I-94018 Troina, EN, Italy

[2] Hosp Perugia, Unit Neurophysiopathol, Perugia, Italy

[3] Univ Naples Federico II, Epilepsy Ctr, Dept Neurol Sci, Naples, Italy

[4] Univ Genoa, Inst G Gaslini, Muscular & Neurodegenerat Dis Unit, Genoa, Italy

[5] Bellaria Hosp, Dept Neurosci, Bologna, Italy

来源：

BRAIN & DEVELOPMENT | 2008年 / 30卷 / 06期

关键词：

epilepsy; chromosome abnormalities; trisomy; 4p; monosomy Xq; array-CGH;

D O I：

10.1016/j.braindev.2007.11.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Studies of epilepsy associated with chromosomal abnormalities may provide information about clinical and EEG phenotypes and possibly to identify new epilepsy genes. We describe a female patient with intractable focal epilepsy, borderline intellectual functioning, and facial dysmorphisms, in whom genetic study (i.e., karyotype and array-CGH analysis) revealed a distal trisomy 4p and distal monosomy Xq. Although any genetic hypothesis remains speculative, several genes are located in the 4p chromosome segment involved in the rearrangement, some of which may be related to epilepsy. (C) 2007 Elsevier B.V. All rights reserved.

引用

页码：425 / 429

页数：5