Cytogenetics Overview: The Journey of chromosomes from the cell to karyotype

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Overview

Chromosomes have attracted many microscopists not only because these sausage-like bodies represent the vehicle of genetic material (and hence, are biologically important) but also because they are hypnotically beautiful objects” (Hsu 1979)


Cytogenetics is a branch of genetics that studies the relationship between chromosomal aberrations and genetic diseases. This specialized laboratory testing provides diagnostic and prognostic tools to characterize specific human genetic disorders. This lecture intends to illustrate chromosome biology and appreciate the experimental evidence that has led to the current state of understanding.

What I will learn?

By the end of the lecture you will be able to:
1. Recognize the basic concepts of cytogenetics and identify different indications for chromosomal testing.
2. Identify the role of chromosomes in cell biology.
3. Describe the technical procedure of chromosomal testing.
4. Recognition of different types of chromosomal aberrations.
5. Identify the most common case scenario.
  • clock Last Update 06/2020
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