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

Lucio Giordano, Filippo Palestra, Grazia Giuffrida Maria, Anna Molinaro, Alessandro Iodice, Laura Bernardini, Paola La Boria, Patrizia Accorsi, Antonio Novelli

Research output: Contribution to journalArticlepeer-review

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 829kb 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.

Original languageEnglish
Pages (from-to)225-230
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number1
DOIs
Publication statusPublished - Jan 2014

Keywords

  • 17p13.1 microdeletion
  • Array-CGH
  • Cognitive disability
  • Gene expression study
  • Seizures

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

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