Identification and characterisation of constitutional chromosome abnormalities using arrays of bacterial artificial chromosomes

Br J Cancer. 2004 Feb 23;90(4):860-5. doi: 10.1038/sj.bjc.6601588.


Constitutional chromosome deletions and duplications frequently predispose to the development of a wide variety of cancers. We have developed a microarray of 6000 bacterial artificial chromosomes for array-based comparative genomic hybridisation, which provides an average resolution of 750 kb across the human genome. Using these arrays, subtle gains and losses of chromosome regions can be detected in constitutional cells, following a single overnight hybridisation. In this report, we demonstrate the efficiency of this procedure in identifying constitutional deletions and duplications associated with predisposition to retinoblastoma, Wilms tumour and Beckwith-Wiedemann syndrome.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Bacteria / genetics
  • Beckwith-Wiedemann Syndrome / genetics
  • Chromosome Deletion*
  • Chromosomes, Artificial, Bacterial*
  • Genetic Predisposition to Disease*
  • Humans
  • Kidney Neoplasms / genetics
  • Nucleic Acid Hybridization
  • Oligonucleotide Array Sequence Analysis
  • Retinoblastoma / genetics
  • Wilms Tumor / genetics