Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2 → q24.3 in a girl with autistic features and developmental delay

被引：24

作者：

Chen, Chih-Ping ^{[1
,2
,3
,4
,5
,6
]}

Lin, Shuan-Pei ^{[2
,7
]}

Chern, Schu-Rern ^{[2
]}

Chen, Yann-Jang ^{[8
,9
]}

Tsai, Fuu-Jen ^{[4
,10
,11
]}

Wu, Pei-Chen ^{[1
]}

Wang, Wayseen ^{[2
,12
]}

机构：

[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan

[2] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan

[3] Asia Univ, Dept Biotechnol, Taichung, Taiwan

[4] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan

[5] Natl Yang Ming Univ, Inst Clin & Community Hlth Nursing, Taipei 112, Taiwan

[6] Natl Yang Ming Univ, Dept Obstet & Gynecol, Sch Med, Taipei 112, Taiwan

[7] Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan

[8] Natl Yang Ming Univ, Fac Life Sci, Taipei 112, Taiwan

[9] Natl Yang Ming Univ, Inst Genome Sci, Taipei 112, Taiwan

[10] China Med Univ Hosp, Dept Med Genet, Taichung, Taiwan

[11] China Med Univ Hosp, Dept Med Res, Taichung, Taiwan

[12] Tatung Univ, Dept Bioengn, Taipei 104, Taiwan

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2010年 / 53卷 / 04期

关键词：

Array-CGH; 2q24.2; 2q24.3; Deletion; Autism; SCN2A; SCN3A; SODIUM-CHANNELS SCN1A; SCN3A; SCN2A; LOCI; CHROMOSOME-2; IMPAIRMENT; MUTATION; SCAN; GENE;

D O I：

10.1016/j.ejmg.2010.03.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

We report a 3 years and 4 months old girl with autistic features, developmental delay, mental retardation, language impairment and dysmorphic features, carrying a 2.8 Mb de novo deletion of chromosome 2q24.2 -> q24.3 detected by array-CGH. This region contains two neuronal voltage-gated sodium channel genes SCN2A and SCN3A. (C) 2010 Elsevier Masson SAS. All rights reserved.

引用

页码：217 / 220

页数：4

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