17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome

Pia Bernardo, Francesca Madia, Lia Santulli, Luigi Del Gaudio, Carmela Caccavale, Federico Zara, Monica Traverso, Mario Cirillo, Salvatore Striano, Antonietta Coppola

Research output: Contribution to journalArticlepeer-review


The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with intellectual disabilities and organ abnormalities.We report the clinical, instrumental, cytogenetic and molecular investigations of a boy admitted for epilepsy and intellectual disabilities. We carried out detailed analysis of the clinical phenotype of this patient and investigated the genetic basis by using aCGH. We identified a de novo microdeletion on chromosome 17q21.31, compatible with Koolen-de Vries syndrome.Our case shares some of the typical characteristics of the syndrome already described by other authors: delayed psychomotor development, primarily affecting the expressive language, dysmorphic facial features, and epilepsy. However the clinical outcome was not severe as the intellectual disabilities were moderate with good adaptive and functional behaviour. Epilepsy was easily controlled by a single drug, and he never needed surgery for organ abnormalities.

Original languageEnglish
JournalBrain and Development
Publication statusAccepted/In press - 2016


  • 17q21.31 microdeletion
  • Array-CGH
  • Behavioural disorders
  • Copy number variation
  • Epilepsy
  • Intellectual disability

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health


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