ArTS Archivio della ricerca di Trieste
ArTS è il sistema di gestione integrata dei dati della ricerca adottato dall' Università degli Studi di Trieste
EnglishArray 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.
| Titolo: | 17p13.1 microdeletion: Genetic and clinical findings in a new patient with epilepsy and comparison with literature | |
| Autori: | ||
| Data di pubblicazione: | 2014 | |
| Rivista: | ||
| 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. | |
| Handle: | http://hdl.handle.net/11368/2755793 | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1002/ajmg.a.36225 | |
| Appare nelle tipologie: | 1.1 Articolo in Rivista |
File in questo prodotto:
http://hdl.handle.net/11368/2755793
