Molecular cytogenomics of human genetic disorders

With the advancement of molecular technologies, conventional cytogenetics has been transited successfully to an era of cytogenomics for the investigation of human genetic disorders. This chapter introduces different technologies with the scopes of detection in a historical perspective and highlights recent advances in cytogenomics and innovative technologies in characterizing genome-wide genomic abnormalities that are cryptic to conventional methods. Moreover, with the enhancement in current knowledge of the pathogenicity of chromosomal abnormalities, scenarios are also illustrated in which gene dysregulation is implicated from a balanced structural rearrangement such as affecting topologically associated domains to adopt additional regulatory elements or disruption of the noncoding RNA which regulated its expression. Overall, this chapter aims to illustrate the most cost-effective method for a specific group or an individual, and an investigation of the potential genomic variants among balanced and unbalanced chromosomal structural rearrangements in the clinical cytogenomics laboratory setting.