Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features

Carla Lintas, Chiara Picinelli, Ignazio S. Piras, Roberto Sacco, Stefano Gabriele, Magda Verdecchia, Antonio M. Persico

Research output: Contribution to journalArticlepeer-review

Abstract

A novel 19.98-Mb duplication in chromosome Xp22.33p22.12 was detected by array CGH in a 30-year-old man affected by intellectual disability, congenital hypotonia and dysmorphic features. The duplication encompasses more than 100 known genes. Many of these genes (such as neuroligin 4, cyclin-dependent kinase like 5, and others) have already correlated with X-linked intellectual disability and/or neurodevelopmental disorders. Due to the high number of potentially pathogenic genes involved in the reported duplication, we cannot correlate the clinical phenotype to a single gene. Indeed, we suggest that the resulting clinical phenotype may have arisen from the overexpression and consequent perturbation of fine gene dosage.

Original languageEnglish
Pages (from-to)236-241
Number of pages6
JournalMolecular Syndromology
Volume6
Issue number5
DOIs
Publication statusPublished - Dec 1 2015

Keywords

  • Duplication Xp22.33p22.12
  • Dysmorphic facial features
  • Intellectual disability

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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