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Biomedical Basics

Chromosomal aberrations and genetic disorders

  • Created by Henry Stewart Talks
Published on February 26, 2026   4 min

A selection of talks on Genetics & Epigenetics

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This session centers on chromosomal aberrations and genetic disorders, offering a structured look at the fundamental concepts of chromosomal aberrations, including their types, numerical and structural and how they occur. We will discuss key examples of genetic disorders caused by these aberrations, such as down syndrome, turner syndrome, and microdeletion syndromes. Diagnostic methods like carrier typing, fish, and genome wide analysis will be described, along with the significant health impacts and challenges faced by affected individuals. Let's begin by establishing the basics. Chromosomal aberrations are changes in the structure or number of chromosomes within a cell. Humans have 46 chromosomes arranged in 23 pairs. Alterations in this number or structural changes can lead to significant developmental and health consequences. Aberrations may occur during cell division, especially miosis, due to chromosome separation errors or exposure to mutagens. These changes can be inherited or arise spontaneously and may affect every cell or cause mosaicism. Chromosomal aberrations are central to many genetic disorders. Chromosomal aberrations are classified as numerical or structural. Numerical aberrations involve changes in chromosome number, such as aneuploids like trisomy, as in down syndrome, or monosomy, as in turner syndrome. Polyploid, though rare in humans, means having extra sets of chromosomes and appears mainly in miscarriages.

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Chromosomal aberrations and genetic disorders

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