The diagnostic yield of array comparative genomic hybridization is high regardless of severity of intellectual disability/developmental delay in children

Stefano D'Arrigo, Francesco Gavazzi, Enrico Alfei, Orsetta Zuffardi, Cristina Montomoli, Barbara Corso, Erika Buzzi, Francesca L. Sciacca, Sara Bulgheroni, Daria Riva, Chiara Pantaleoni

Research output: Contribution to journalArticle


Microarray-based comparative genomic hybridization is a method of molecular analysis that identifies chromosomal anomalies (or copy number variants) that correlate with clinical phenotypes. The aim of the present study was to apply a clinical score previously designated by de Vries to 329 patients with intellectual disability/developmental disorder (intellectual disability/developmental delay) referred to our tertiary center and to see whether the clinical factors are associated with a positive outcome of aCGH analyses. Another goal was to test the association between a positive microarray-based comparative genomic hybridization result and the severity of intellectual disability/developmental delay. Microarray-based comparative genomic hybridization identified structural chromosomal alterations responsible for the intellectual disability/developmental delay phenotype in 16% of our sample. Our study showed that causative copy number variants are frequently found even in cases of mild intellectual disability (30.77%). We want to emphasize the need to conduct microarray-based comparative genomic hybridization on all individuals with intellectual disability/developmental delay, regardless of the severity, because the degree of intellectual disability/developmental delay does not predict the diagnostic yield of microarray-based comparative genomic hybridization.

Original languageEnglish
Pages (from-to)691-699
Number of pages9
JournalJournal of Child Neurology
Issue number6
Publication statusPublished - 2015



  • array-CGH
  • developmental delay
  • intellectual disability

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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