De novo 1q21.3q22 duplication revaluation in a “cold” complex neuropsychiatric case with syndromic intellectual disability

Roberta Milone, Roberta Scalise, Rosa Pasquariello, Stefano Berloffa, Ivana Ricca, Roberta Battini

Research output: Contribution to journalArticlepeer-review

Abstract

Syndromic intellectual disability often obtains a genetic diagnosis due to the combination of first and next generation sequencing techniques, although their interpretation may require revaluation over the years. Here we report on a composite neuropsychiatric case whose phenotype includes moderate intellectual disability, spastic paraparesis, movement disorder, and bipolar disorder, harboring a 1.802 Mb de novo 1q21.3q22 duplication. The role of this duplication has been reconsidered in the light of negativity of many other genetic exams, and of the possible pathogenic role of many genes included in this duplication, potentially configuring a contiguous gene-duplication syndrome.

Original languageEnglish
Article number511
JournalGenes
Volume12
Issue number4
DOIs
Publication statusPublished - Apr 2021

Keywords

  • ASH1L
  • Movement disorder
  • RIT1
  • Spastic paraparesis
  • SYT11
  • UBQLN4

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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