BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Am J Med Genet A. 2006 Feb 1;140(3):205-11. doi: 10.1002/ajmg.a.31098.


Array using 2,173 BAC clones covering the whole human genome has been constructed. All clones spotted were confirmed to show a unique signal at the predicted chromosomal location by FISH analysis in our laboratory. A total of 30 individuals with idiopathic mental retardation (MR) were analyzed by comparative genomic hybridization using this array. Three deletions, one duplication, and one unbalanced translocation could be detected in five patients, which are likely to contribute to MR. The constructed array was shown to be an efficient tool for the detection of pathogenic genomic rearrangements in MR patients as well as copy number polymorphisms (CPNs).

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosomes, Artificial, Bacterial / genetics*
  • Female
  • Genome, Human*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / etiology
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Nucleic Acid Hybridization / methods*
  • Translocation, Genetic