Detection of microdeletion/microduplication
Microdeletions/microduplications are chromosomal deletions/duplications that are too small to be detected with a conventional karyotype using cytogenetics methods. Only molecular DNA technology can be used for identification. The most common techniques for detection are microarrays (array CGH), MLPA (Multiplex Ligation-dependent Probe Amplification), quantitative PCR or FISH (Fluorescent In Situ Hybridisation)