Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome

Elisa Tassano, Thea Giacomini, Mariasavina Severino, Alessandra Gamucci, Patrizia Fiorio, Giorgio Gimelli, Patrizia Ronchetto

Research output: Contribution to journalArticle

Abstract

17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Seventeen patients have been reported so far. Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11.2 microduplications. We also analyzed the gene content of the duplicated region in order to investigate the possible role of specific genes in the clinical phenotype of our patient.

Original languageEnglish
Pages (from-to)22-28
Number of pages7
JournalCytogenetic and Genome Research
Volume152
Issue number1
DOIs
Publication statusPublished - 2017

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Keywords

  • Brain
  • Child
  • Chromosome Deletion
  • Chromosome Duplication
  • Chromosomes, Human
  • Chromosomes, Human, Pair 17
  • Comparative Genomic Hybridization
  • Craniofacial Abnormalities
  • Facies
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability
  • Karyotyping
  • Learning Disorders
  • Magnetic Resonance Imaging
  • Male
  • Neurofibromatoses
  • Phenotype
  • Case Reports
  • Journal Article

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