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

共 2 条

[1] Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features
Petriczko, Elzbieta
Biczysko-Mokosa, Agnieszka
Bogdanowicz, Joanna
Constantinou, Maria
Zdziennicka, Elzbieta
Horodnicka-Jozwa, Anita
Barg, Ewa
Gawlik-Zawislak, Sylwia
Sulek-Piatkowska, Anna
Dawid, Grazyna
Walczak, Mieczyslaw
Pesz, Karolina
Kedzia, Andrzej
Zajaczek, Stanislaw
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (06) : 1442 - 1446
[2] Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1→pter) and partial trisomy 10q (10q25.1→qter)
Chen, Chih-Ping
Chen, Yann-Jang
Chern, Schu-Rern
Tsai, Fuu-Jen
Chang, Tung-Yao
Lee, Chen-Chi
Town, Dai-Dyi
Lee, Meng-Shan
Wang, Wayseen
PRENATAL DIAGNOSIS, 2008, 28 (05) : 450 - 453

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