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Eur J Med Genet. 2010 Jul-Aug;53(4):217-20. 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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  • 1Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com

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.

PMID:
20346423
[PubMed - indexed for MEDLINE]
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