What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH)
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.
- What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH)
- Open Access
- Available under Open Access This content is freely available online to anyone, anywhere at any time.
European Journal of Pediatrics
Volume 166, Issue 7 , pp 637-643
- Cover Date
- Print ISSN
- Online ISSN
- Additional Links
- Molecular karyotyping
- Array CGH
- Comparative genomic hybridisation
- Industry Sectors