Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals

Genes Chromosomes Cancer. 1999 Aug;25(4):410-3. doi: 10.1002/(sici)1098-2264(199908)25:4<410::aid-gcc17>;2-j.


Comparative genomic hybridization (CGH) is a widely used technique for studying chromosomal imbalances. The sensitivity of the technique is, however, relatively low. Deletions down to a size of 10-12 Mbp have been detected by the use of fixed diagnostic thresholds. In this study, we applied standard reference intervals as detection criteria on a number of deletions in the range of 3 Mbp to 14-18 Mbp. All deletions were detected. Thus, detection by standard reference intervals confers a considerably higher sensitivity to CGH analysis compared to fixed diagnostic thresholds. Genes Chromosomes Cancer 25:410-413, 1999.

Publication types

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

MeSH terms

  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • DNA, Neoplasm / isolation & purification
  • Humans
  • In Situ Hybridization, Fluorescence
  • Nucleic Acid Hybridization / methods
  • Reference Standards
  • Sequence Deletion*


  • DNA, Neoplasm