Review

European Journal of Pediatrics

, Volume 166, Issue 7, pp 637-643

Open Access This content is freely available online to anyone, anywhere at any time.

What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

  • Thomy J. L. de RavelAffiliated withCentre for Human Genetics, University Hospitals Leuven Email author 
  • , Koen DevriendtAffiliated withCentre for Human Genetics, University Hospitals Leuven
  • , Jean-Pierre FrynsAffiliated withCentre for Human Genetics, University Hospitals Leuven
  • , Joris R. VermeeschAffiliated withCentre for Human Genetics, University Hospitals Leuven

Abstract

Molecular karyotyping by array comparative genomic hybridisation (array CGH) has doubled the detection rate of pathogenic chromosomal imbalances in patients. This has been possible by increasing the resolution level from the 5 Mb obtained using the conventional karyotype to as low as 100 kb by array technology. Moreover, the technology revealed that over 12% of the human genome includes sub-microscopic benign copy number variable regions. These new findings have implications in genetic counselling and patient management.

Keywords

Molecular karyotyping Array CGH Comparative genomic hybridisation