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 journalArticle

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

Fingerprint

Epilepsy
Multiple Abnormalities
Genetic Databases
Comparative Genomic Hybridization
Disabled Children
Intellectual Disability
Genes
Phenotype

Keywords

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

ASJC Scopus subject areas

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

Cite this

17p13.1 microdeletion : Genetic and clinical findings in a new patient with epilepsy and comparison with literature. / Giordano, Lucio; Palestra, Filippo; Giuffrida Maria, Grazia; Molinaro, Anna; Iodice, Alessandro; Bernardini, Laura; La Boria, Paola; Accorsi, Patrizia; Novelli, Antonio.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 1, 01.2014, p. 225-230.

Research output: Contribution to journalArticle

Giordano, Lucio ; Palestra, Filippo ; Giuffrida Maria, Grazia ; Molinaro, Anna ; Iodice, Alessandro ; Bernardini, Laura ; La Boria, Paola ; Accorsi, Patrizia ; Novelli, Antonio. / 17p13.1 microdeletion : Genetic and clinical findings in a new patient with epilepsy and comparison with literature. In: American Journal of Medical Genetics, Part A. 2014 ; Vol. 164, No. 1. pp. 225-230.
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