Detection of chromosome alteration large in size

Conventional cytogenetic testing, also referred to as karyotyping, is generally used for the detection of numerical and structural abnormalities large in size. In the first case, there may be one chromosome too many (triploidy) or one too few (monosomy). In the second case, one or more chromosomes have an abnormal structure. We can find inversion and translocation rearrangements without loss of chromosome material (a balanced rearrangement) or deletion (with loss of DNA) and duplication rearrangements (with gain of DNA) large in size (more than 5 to 10 Mb).