17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.

Abstract excerpt

Array comparative genomic hybridization is now a powerful tool to investigate patients with multiple congenital abnormalities and intellectual/motor impairment, and genomic imbalances are identified in a growing number of children with intellectual disability. Deletions in the 17p13.1 region have been reported in patients with dysmorphic features and developmental delay but a consistent phenotype has yet to...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Abnormalities, Multiple
• Share to Child