학술논문
Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?
Document Type
Letter
Source
Subject
*AUTISM spectrum disorders
*AUTISTIC children
*COMPARATIVE genomic hybridization
*DNA microarrays
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Language
ISSN
0340-5354
Abstract
The article describes a case of Phelan-McDermid syndrome presenting with autistic spectrum disorder (ASD) in a 9-year-old girl. The patient presented with delayed motor skills and language impairment since childhood, associated with hypotonia. Phelan-McDermid syndrome was diagnosed based on microarray-comparative genomic hybridization (array-CGH) results.