Array comparative genomic hybridization findings in a cohort referred for an autism evaluation

G. Bradley Schaefer, Lois J Starr, Dianne Pickering, Gwenn Skar, Kristi Dehaai, Warren G. Sanger

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

The development and refinement of array comparative genomic hybridization has led to expanded applications as a diagnostic tool. Recent reports suggest a high diagnostic yield for array comparative genomic hybridization in autism spectrum disorders. The objective of this study was to determine the diagnostic yield in array comparative genomic hybridization for autism at the University of Nebraska Medical Center. The authors report the diagnostic yield of array comparative genomic hybridization in 89 samples with a primary indication of autism. Clinical information was reviewed for 89 identified cases. Twenty-one cases were excluded because of ambiguous information regarding the diagnosis, a diagnosis other than autism, or abnormal karyotype. Of 68 cases referred for array comparative genomic hybridization testing with a primary indication of autism, 14 (21%) had abnormal findings. This study supports array comparative genomic hybridization in the etiologic evaluation of autism and elevation of array to a first tier diagnostic test.

Original languageEnglish (US)
Pages (from-to)1498-1503
Number of pages6
JournalJournal of Child Neurology
Volume25
Issue number12
DOIs
Publication statusPublished - Dec 1 2010

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Keywords

  • chromosomal microarray
  • chromosome 16p
  • copy number change
  • fluorescent in situ hybridization
  • pervasive developmental disorders

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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