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Chromosomal abnormality, laboratory techniques, tools and databases in molecular Cytogenetics

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Abstract

Cytogenetics is concerned with the structure and number of chromosomes (Karyotyping) and their abnormalities not only in congenital but also in acquired genetic disorders. Chromosomal abnormalities can form when there is an error occurred in chromosome number and, or their structural changes. Such changes happen by itself or inductively by environmental agents like chemical reagents, radiation, etc. Cytogenetics techniques used to understand chromosomal disorders and their relationship to health and disease provide not only valuable clues about chromosome breakage and DNA repair mechanisms but also a more proper understanding of their relationship to cause various illnesses. In this sense, to evaluate chromosomal imbalance and rearrangement, alternative experimental methods have been expanded. Currently, Cytogenetics evolves into a multidimensional science that led to promoting both theoretically and technologically advanced molecular biology, flow cytometry, bioinformatics, and phylogeny. This study investigates the unique laboratory Cytogenetics methods, databases, algorithms, and software used molecular Cytogenetics to identify various chromosomal abnormalities.

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Funding

This work was supported by University of Zabol in Grant code: UOZ-GR-9618–9.

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Concepts: SM and AE. Design: AE and BH. Literature research: SM and AE. Manuscript preparation: AE and BH. Interpretation and discussion: AE and BH.

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Correspondence to Abbasali Emamjomeh or Behzad Hajieghrari.

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Montazerinezhad, S., Emamjomeh, A. & Hajieghrari, B. Chromosomal abnormality, laboratory techniques, tools and databases in molecular Cytogenetics. Mol Biol Rep 47, 9055–9073 (2020). https://doi.org/10.1007/s11033-020-05895-5

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