Copy number and SNP arrays in clinical diagnostics

Christian P. Schaaf, Joanna Wiszniewska, Arthur L. Beaudet

Research output: Contribution to journalArticlepeer-review

125 Scopus citations


The ability of chromosome microarray analysis (CMA) to detect submicroscopic genetic abnormalities has revolutionized the clinical diagnostic approach to individuals with intellectual disability, neurobehavioral phenotypes, and congenital malformations. The recognition of the underlying copy number variant (CNV) in respective individuals may allow not only for better counseling and anticipatory guidance but also for more specific therapeutic interventions in some cases. The use of CMA technology in prenatal diagnosis is emerging and promises higher sensitivity for several highly penetrant, clinically severe microdeletion and microduplication syndromes. Genetic counseling complements the diagnostic testing with CMA, given the presence of CNVs of uncertain clinical significance, incomplete penetrance, and variable expressivity in some cases. While oligonucleotide arrays with high-density exonic coverage remain the gold standard for the detection of CNVs, single-nucleotide polymorphism (SNP) arrays allow for detection of consanguinity and most cases of uniparental disomy and provide a higher sensitivity to detect low-level mosaic aneuploidies.

Original languageEnglish (US)
Pages (from-to)25-51
Number of pages27
JournalAnnual Review of Genomics and Human Genetics
StatePublished - Jul 13 2011
Externally publishedYes


  • Consanguinity
  • Intellectual disability
  • Microarray
  • Mosaicism
  • Neuropsychiatric disorders
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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