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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- 作者：Chih-Ping Chen ; Shuan-Pei Lin ; Schu-Rern Chern ; Yann-Jang Chen ; Fuu-Jen Tsai ; Pei-Chen Wu ; Wayseen Wang
- 关键词：Array-CGH ; 2q24.2 ; 2q24.3 ; Deletion ; Autism ; SCN2A ; SCN3A
- 刊名：European Journal of Medical Genetics
- 出版年：2010
- 出版时间：July-August 2010
- 年：2010
- 卷：53
- 期：4
- 页码：217-220
- 全文大小：919 K
文摘
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.