What can chromosomal microarray detect?

Chromosomal microarray technology is particularly effective at detecting copy number variations (CNVs) across the genome, which includes deletions or duplications of DNA segments. This method is adept at identifying aneuploidy, which refers to the presence of an abnormal number of chromosomes in a cell. For example, in a typical human cell, there are 46 chromosomes (23 pairs), and aneuploidy may involve having more than 46 (such as in trisomy) or fewer than 46 chromosomes (such as in monosomy).

While it is true that chromosomal microarray can also provide information related to certain chromosomal disorders, it does not effectively detect balanced translocations or targeted mutations. Balanced translocations do not typically result in a gain or loss of genetic material, which makes them difficult to detect with microarray technology. Though triploidy is a type of aneuploidy characterized by three sets of chromosomes instead of two, the most direct and common application of chromosomal microarray is to identify unbalanced aneuploidy. Targeted mutations usually require sequencing techniques rather than microarray analysis, as these mutations may involve single nucleotide changes that do not result in copy number changes.