Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2814409 | European Journal of Medical Genetics | 2010 | 4 Pages |
Abstract
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.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Genetics
Authors
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Yann-Jang Chen, Fuu-Jen Tsai, Pei-Chen Wu, Wayseen Wang,