title: Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.
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.
authors: University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, Arkansas, USA. SchaeferGB@uams.edu
authors: G Bradley
authors: GB
authors: Schaefer
authors: Lois
authors: L
authors: Starr
authors: Dianne
authors: D
authors: Pickering
authors: Gwenn
authors: G
authors: Skar
authors: Kristi
authors: K
authors: Dehaai
authors: Warren G
authors: WG
authors: Sanger
mesh_terms: D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D015331:Cohort Studies; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male