Recent Molecular Techniques in Cytogenetics

Cytogenetics involves all aspects of chromosome biology. Through the application of molecular cytogenetic techniques in biology and medicine, we gain insights into the structural and functional organization of chromosomes, chromosomal abnormalities, and genomic variations in developmental, medical, and cancer genetics. This chapter explores recent advancements in molecular cytogenetics and their implications for managing hereditary diseases. It explores cutting-edge molecular methodologies such as spectral karyotyping, fluorescence in situ hybridization, and next-generation sequencing alongside the groundbreaking CRISPR genome editing technology. The chapter will highlight how these technologies have enhanced our understanding of chromosomal abnormalities, genome variation, and the genetic basis of hereditary diseases. Furthermore, it will shed light on the potential of these advancements in paving the way for novel therapeutic interventions aimed at rectifying genetic abnormalities associated with hereditary diseases, thereby offering new avenues for medical intervention and treatment.