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
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
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DOI：
10.1016/j.ejmg.2010.03.006
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发表时间：
2010-07-01
影响因子：
1.9
通讯作者：
Wang, Wayseen
中科院分区：
文献类型：
--
作者：
Chen, Chih-Ping;Lin, Shuan-Pei;Wang, Wayseen
我们报告一个3岁4个月的女孩，具有自闭症的特征，发育迟缓，智力低下，语言障碍和畸形的特点，携带2.8 Mb的从头缺失染色体2q24.2 -> q24.3检测阵列CGH。该区域包含两个神经元电压门控钠通道基因SCN 2A和SCN 3A。(C)2010年Elsevier Masson SAS。All rights reserved.
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.