Abstract
Various studies of a number of human diseases in the past few decades have made the role of chromosome analysis widely recognizable in the detection of anomalies, as rising chromosomal changes are not unusual. Chromosomal aberrations have been detected in conceptions, early spontaneous abortions, and mental disorders and many forms of cancer. Due to this fact, cytogenetic analysis of chromosomes has become a must in most countries. Suffice to say that these analyses have provided accurate and concise results leading to new findings. The very first analyses had to be done manually by cytogeneticists, which required long periods of time. This was a very time-consuming task which was mainly prone to inaccuracies caused by human error. Namely, a number of automated and semi-automated methodologies for categorizing chromosomes had to be developed with the aim of avoiding faulty results. This work presents a review on the process of karyotyping: from the biological basis and methodology to the technical tools and software needed for the realization of this process. In addition, this paper will encapsulate the importance of collaborations between computer scientists and cytogeneticists in order to improve this detail-oriented study. The contents of this material are written for educational and informative purposes.
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