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.
de Ravel
Thomy J L
TJ
Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium. Thomy.deRavel@uz.kuleuven.ac.be
Devriendt
Koen
K
Fryns
Jean-Pierre
JP
Vermeesch
Joris R
JR
D000015:Abnormalities, Multiple / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D009369:Neoplasms / Q000235:genetics; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis / Q000639:trends*; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic