Case Reports
doi: 10.1016/j.ejmg.2010.03.006.
Epub 2010 Mar 24.
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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- PMID: 20346423
- DOI: 10.1016/j.ejmg.2010.03.006
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Case Reports
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
Eur J Med Genet.
2010 Jul-Aug.
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.
Copyright 2010 Elsevier Masson SAS. All rights reserved.
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