The past decade has seen an explosion of methodological advances in molecular cytogenetics technology. Molecular cytogenetics: an indispensable tool for cancer diagnosis.Ĭytogenetic aberrations may escape detection or recognition in traditional karyotyping. Herein, the basic principles of molecular cytogenetics, the technologies used to identify chromosomal rearrangements and copy number changes, and the applications for cytogenetics in biomedical diagnosis and research are presented and discussed. This manuscript does not present a detailed history of the development of molecular cytogenetics however, references to historical reviews and experiments have been provided whenever possible. Overall, molecular cytogenetic techniques offer a remarkable number of potential applications, ranging from physical mapping to clinical and evolutionary studies, making a powerful and informative complement to other molecular and genomic approaches. In adopting these newly expanded methods, cytogeneticists have used a range of technologies to study the association between visible chromosome rearrangements and defects at the single nucleotide level. Furthermore, the increased application of molecular biology techniques, such as array-based technologies, has led to improved resolution, extending the recognized range of microdeletion/microduplication syndromes and genomic disorders. The field of cytogenetics is particularly important for medical diagnostics and research as well as for gene ordering and mapping. This technique has a wide range of applications that increased the dimension of chromosome analysis. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. Human molecular cytogenetics: From cells to nucleotides
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