Diagnostic utility of array-based comparative genomic hybridization in a clinical setting

Hagit N. Baris, Wen Hann Tan, Virginia E. Kimonis, Mira B. Irons*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Array-based comparative genomic hybridization is a recently introduced technique for the detection of submicroscopic genomic imbalances (deletions or duplications) across the entire genome. To assess the potential utility of a widely available array-based comparative genomic hybridization platform that targets specific, clinically relevant, loci across the genome for cytogenetic diagnosis in a clinical setting, we reviewed the medical records of all 373 patients at Children's Hospital Boston who had normal chromosomal analysis and were tested with this targeted array-based comparative genomic hybridization over a 1-year period from November 1, 2004 to October 31, 2005. These patients were tested because of a suspicion of chromosomal abnormalities based on their clinical presentation. Thirty-six patients (9.7%) had abnormal array-based comparative genomic hybridization results. Twenty patients (5.4%) had potentially pathogenetic genomic imbalances and 16 patients (4.3%) had copy number variations that are not believed to be pathogenetic. Thirteen of 234 patients (5.6%) with mental retardation/ global developmental delay, 10/114 patients (8.8%) with facial dysmorphism, 5/58 patients (8.6%) with multiple congenital anomalies, and 4/35 patients (11.4%) with both facial dysmorphism and multiple congenital anomalies had potentially pathogenetic genomic imbalances. Targeted array-based comparative genomic hybridization is a clinically available test that is useful in the evaluation of patients suspected of having chromosomal disorders. However, it is best used as an adjunct to chromosomal analysis when a clear genetic diagnosis is unavailable.

Original languageEnglish (US)
Pages (from-to)2523-2533
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Issue number21
StatePublished - Nov 1 2007
Externally publishedYes


  • Chromosome aberrations
  • Chromosome disorders
  • Copy number variations
  • Gene deletion
  • Gene dosage
  • Gene duplication
  • Microarray comparative genomic hybridization

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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