TITLE

Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?

AUTHOR(S)
Rezende Pinto, Wladimir; Pedroso, José; Souza, Paulo; Oliveira, Acary; Barsottini, Orlando
PUB. DATE
November 2013
SOURCE
Journal of Neurology;Nov2013, Vol. 260 Issue 11, p2900
SOURCE TYPE
Academic Journal
DOC. TYPE
Letter
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.
ACCESSION #
91733594

 

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