title: 17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.
abstract: 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 emerge. Here, we report on the diagnosis of a 17p13.1 microdeletion of 829 kb in an 8-year-old girl presenting with profound cognitive disability, psychomotor delay, facial dysmorphisms, and refractory epilepsy. This deletion comprises 44 genes, including 8 OMIM morbid genes. We discuss genetic, clinical, and epileptic features comparing our patient with those previously reported in the literature.
authors: Lucio
authors: L
authors: Giordano
authors: Filippo
authors: F
authors: Palestra
authors: Maria Grazia
authors: MG
authors: Giuffrida
authors: Anna
authors: A
authors: Molinaro
authors: Alessandro
authors: A
authors: Iodice
authors: Laura
authors: L
authors: Bernardini
authors: Paola
authors: P
authors: La Boria
authors: Patrizia
authors: P
authors: Accorsi
authors: Antonio
authors: A
authors: Novelli
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D055028:Comparative Genomic Hybridization; D004569:Electroencephalography; D019066:Facies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype