Numerical and Structural Chromosomal Rearrangements and their Influence on the Evolution of the Human Karyotype

This chapter will present a broad overview of the diversity of all numerical and
structural anomalies after analyzing 40.320 karyotypes performed at the Genetics
and Molecular Biology Laboratory of Bogotá, Colombia, from January 2014 to
December 2024. The standard classical cytogenetics technique was used to perform
karyotypes, and software analyzed images and organized karyotypes. We found 17
chromosomal anomalies in the Colombian population in particular, and in general
to all human beings, because they belong to the same species that transmits, from
generation to generation, both molecular mutations and numerical and structural
rearrangements to their offspring. We appreciate the diversity of visible mutational
mechanisms in our genome. That, in one way or another, forms the basis and raw
material on which natural selection acts to drive the chromosomal evolution of our
species. We present the frequency of all visible chromosomal abnormalities in the
Colombian population.