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aberrations such as Cri du chat syndrome are characterized by changes in the copy number of a small region of a chromosome 5p (short arm). Array CGH is very useful to look at submicroscopic levels in order to pinpoint the copy number change (microdeletion usually) which could previously be achieved only by FISH. For instance, a structural change in chromosome 15q11-13 when inherited from the father results in Prader Willi syndrome, while a similar anomaly inherited from the mother results in Angelman syndrome. Array CGH could correctly map the microdeletion in the region. Array CGH can also be used to map with accuracy the critical region of a chromosome involved in a particular genetic disease. For instance, it was known that a deletion involving 18q was responsible for the congenital aural atresia syndrome, but scientists could not narrow down the region critically involved in this condition. Using array CGH, a 5mb region on chromosome 18q22.3-23 as mapped in children suffering from this rare anomaly and seems to be the sought after region. This technique has also been used to study the relationship between a particular genotype and the phenotype associated with it. For instance, Neurofibromatosis type 2 disease has varying grades of severity which were reported to be correlated with different mutations in chromosome 22. However, a CGH array based study showed that there was no relationship between the various deletion anomalies of chromosome 22 and the severity of this disease, although the size of the deleted region varied from 40kb to 6.6 Mb.

Learn more about this author, Subhankar Chakraborty.
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