Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy

Elisa Tassano, Lucia Rosaia De Santis, Maria Franca Corona, Stefano Parmigiani, Dalila Zanetti, Simona Porta, Giorgio Gimelli, Cristina Cuoco

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Rare copy number variations (CNVs) are today recognized as an important cause of various neurodevelopmental disorders, including mental retardation and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation. Results: Here we describe a patient with epilepsy, mental retardation, developmental disorders, and dysmorphic features, who inherited a deletion of 16p13.11 and a triplication of 19p13.3 from his father and mother, respectively. The mother presented mild mental retardation and language delay too. Conclusions: We discuss the phenotypic consequences of the two CNVs and suggest that their synergistic effect is likely responsible for the complicated clinical features observed in our patient.

Original languageEnglish
Article number9
JournalMolecular Cytogenetics
Volume8
Issue number1
DOIs
Publication statusPublished - Feb 5 2015

Keywords

  • 16p13.11
  • 19p13.3
  • Array-CGH
  • Deletion
  • Developmental disorders
  • Epilepsy
  • Intellectual disability
  • Triplication

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Biochemistry
  • Molecular Medicine
  • Biochemistry, medical

Fingerprint

Dive into the research topics of 'Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy'. Together they form a unique fingerprint.

Cite this