High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

Eur J Hum Genet. 2000 Sep;8(9):661-8. doi: 10.1038/sj.ejhg.5200512.


A sensitive technique is needed for screening whole genome imbalances in dyschromosomal patients when G-banding shows normal karyotypes or apparently balanced translocations. In this study we performed highly sensitive comparative genomic hybridisation analysis on a number of such cases and revealed chromosomal imbalances in all.

Publication types

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

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Disorders
  • Congenital Abnormalities / genetics
  • DNA / analysis*
  • DNA Probes / genetics
  • Female
  • Fetus
  • Fluorescent Dyes / metabolism
  • Genetic Testing
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Nucleic Acid Hybridization / methods


  • DNA Probes
  • Fluorescent Dyes
  • DNA