Article
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.
Gene - 1 Mar 2013
Palumbo Orazio, D'Agruma Leonardo, Minenna Adelaide Franca, Palumbo Pietro, Stallone Raffaella, Palladino Teresa, Zelante Leopoldo, Carella Massimo
Abstract excerpt
Interstitial deletion of chromosome region 3p14.1, including FOXP1 gene, is relatively rare and, until recently, there were no strong evidences to support the hypothesis that this microdeletion could play a role in the etiology of genomic disorders. Here, we report on an adult patient with a recognizable phenotype of autism, severe speech delay, deficit of motor coordination and typical dysmorphic features....
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