title: Clinical array comparative genomic hybridization: a new paradigm.
abstract: BACKGROUND
  Although the clinical utility of array comparative genomic hybridization (aCGH) is undisputed, the implementation of this technology is a unique experience for each laboratory.
  
  
  OBJECTIVE
  Endeavors to construct a bacterial artificial chromosome (BAC)-based CGH microarray targeting microdeletion and duplication syndromes related to mental retardation and developmental delay are described.
  
  
  METHODS
  Covering each chromosome at the 650-band level, the array comprises 1360 BAC clones with emphasis on the subtelomeric and pericentromeric regions and enrichment of genomic hot spots containing genes associated with specific constitutional disorders. During development of the array, fluorescence in situ hybridization (FISH) and end-sequencing analysis eliminated 24% of BACs that were mismapped or cross-hybridized, underscoring the need rigorously to assess arrayed elements. Performance of the BACs was tested further with chromosome-specific add-in experiments.
  
  
  CONCLUSIONS
  Of the first 500 clinical cases, 54 (11%) showed chromosome abnormalities, which were confirmed by FISH with BACs from the aberrant loci or by conventional cytogenetics. Array CGH is a powerful tool that is now being implemented in the realm of diagnostic testing.
authors.affiliation: Senior Scientist Quest Diagnostics Nichols Institute, Department of Cytogenetics, 33608 Ortega Highway San Juan Capistrano, CA 92675, USA +1 949 728 4805 ; +1 949 728 4979 ; Patricia.H.Chan@questdiagnostics.com.
authors.forename: Patricia
authors.initials: P
authors.lastname: Chan
authors.forename: Arturo
authors.initials: A
authors.lastname: Anguiano
authors.forename: Kerri
authors.initials: K
authors.lastname: Hensley
authors.forename: Nida
authors.initials: N
authors.lastname: Keo
authors.forename: Yan
authors.initials: Y
authors.lastname: Liu
authors.forename: Renee
authors.initials: R
authors.lastname: Sarno
authors.forename: Charles M
authors.initials: CM
authors.lastname: Strom
authors.forename: Renius
authors.initials: R
authors.lastname: Owen