HR-CGH in clinical cytogenetics


Since the introduction of HR-CGH in 1997 more than 500 analyses have performed in our cytogenetic laboratory. The data show that apart from being an excellent tool for clarification or confirmation of abnormal karyotypes, HR-CGH is well suited for investigation of dysmorphic and mentally retarded individuals with normal or apparently balanced karyotypes. In contrast to conventional CGH, HR-CGH enables detection of small chromosomal aberrations in a number of these patients. The present data suggests that chromosome aberrations may be detected in 12% of dysmorphic and mentally retarded patients with normal conventional karyotype and in 20% of dysmorphic and mentally retarded patients with apparently balanced de novo translocations. So far the majority of the detected aberrations were interstitial. 

We conclude that HR-CGH should be used as follows: 

  1. Dysmorphic and mentally retarded individuals where normal karyotyping has failed to reveal abnormalities.
  2. Dysmorphic and mentally retarded individuals carrying apparently balanced de novo translocations.  
  3. Apparently balanced de novo translocations detected prenatally.  
  4. Clarification of complicated structural rearrangements. 

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Copyright: Dept. of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark   -   Last revised: July 12, 2005