What is the Difference Between Mutation and Chromosomal Aberration

The main difference between mutation and chromosomal aberration is that mutation is the alternation of the sequence of a gene, while chromosomal aberration is the change in the chromosomal number or structure.

DNA or deoxyribonucleic acid is a polymer made up of two polynucleotide chains that coil around each other to form a double helix. This polymer carries the genetic information of an individual within it. Chromosomes are made up of long DNA stands. Gene is a specific area of a chromosome that bears the genetic information or the genetic code for the synthesis of a protein. A chromosome has thousands of genes, and these chromosomes and genes decide the genetic information of a person. But sometimes, this genetic information can alter due to the changes in the genes and chromosomes by mutations. These alternations can sometimes also lead to various disease conditions.

Key Areas Covered

1. What is a Mutation 
     – Definition, Types, Features
2. What is a Chromosomal Aberration
     – Definition, Types, Features
3. Difference Between Mutation and Chromosomal Aberration
     – Comparison of Key Differences

Key Terms

Mutation, Chromosomal Aberration, Gene

Difference Between Mutation and Chromosomal Aberration - Comparison Summary

What is a Mutation

A mutation is an alternation of a gene sequence, resulting in a variant form transmitting diseases. In other words, it is the change in the DNA sequence of a cell. To be more precise, these are the changes in base sequences A, T, C, and G. This permanent alternation of the base sequence is known as a gene mutation. There are many reasons for the occurrence of a mutation. These mutations can occur during DNA replication or cell division as a result of exposure to viral infections or exposure to mutagens. It also can happen due to various environmental factors, such as sunlight and radiation.

Although mutations commonly happen on a daily basis, their effect is very low, as the body has the ability to repair and overcome mutations. But sometimes, there are mutations that may cause diseases in the organisms, such as cystic fibrosis, cancer, and sickle cell anemia. Therefore mutations can be harmful, beneficial, or cause no effect.

Compare Mutation and Chromosomal Aberration - What's the difference?

Types of Mutations

Point mutation is a mutation where a single pair of base substitutions change the genetic code of the gene. Point mutations are of three types: missense mutation, nonsense mutation, and silent mutation. These gene mutations can occur due to the insertion or deletion of the base pairs from the original gene sequence.

There are also two different types of gene mutations: heredity mutations and acquired mutations. Heredity mutations are the mutations that pass on from the parent to the offspring. These mutations are found in the gametes, eggs, and sperms. These are called germline mutations. The other type of mutation is the acquired mutation. These mutations occur due to environmental factors such as toxic chemicals and UV radiation. This type of mutation usually occurs in the somatic cells. Hence, the next generations of offspring do not receive these mutations.

What is a Chromosomal Aberration

Chromosomal aberration is a change in chromosomal number and structure. Other names for chromosomal aberration are chromosomal abnormality, chromosomal anomaly, and chromosome mutations. The reasons for the aberration of chromosomes include the loss of chromosomes, gain of chromosomes, replacement of a part of chromosomes, missing chromosomes, or having an extra chromosome.

Mutation vs Chromosomal Aberration

There are different types of chromosomal aberrations: deletion, duplication, inversion, and translocation. Deletion is the loss of a big part of the chromosome, while duplication is the repeating of a part of the chromosome twice. Translocation is when one part of a chromosome is transferred into a nonhomologous chromosome. Moreover, inversion happens when a chromosome is rotated 180 degrees.

These chromosomal aberrations occur due to errors in the process of cell division. The main reason for the occurrence of chromosomal aberrations in the gametes and offspring is the chromosomal non-disjunction. This is aneuploidy, the presence of an abnormal number of chromosomes. Furthermore, chromosomal aberrations can be inherited from parents or can occur randomly.

Difference Between Mutation and Chromosomal Aberration


A mutation is the alternation of the sequence of a gene, while a chromosomal aberration is a change in the chromosomal number or structure.

Number of Gene Alternations

Mutations (gene mutations) cause alternation in one gene, whereas chromosomal aberrations can include many gene alternations.

Number of Chromosomes Affected

Mutations do not cause any change in the total number of chromosomes, but chromosomal aberrations can cause a change in the total number of chromosomes.


Chromosomal abbreviations can have more dramatic effects on an organism, such as causing developmental abnormalities or leading to uncontrolled cell growth in cancer.


Genes and chromosomes are the materials in organisms that carry genetic information. This genetic information can change due to various factors and methods. Both mutations and chromosomal aberrations cause the alternation of genetic information. The main difference between mutation and chromosome aberration is that mutation is the alternation of the sequence of a gene, while chromosomal aberration is the change in the chromosomal number or structure.


1. “Mutation.” National Human Genome Research Institute.
2. “Chromosome Aberration – Overview.” Science Direct.

Image Courtesy:

1. “Mutations” By Liamdunn2000 – Own work (CC BY-SA 4.0) via Commons Wikimedia
2. “Schematic illustration of chromosomal aberrations” By Philippe Hupé – Emmanuel Barillot, Laurence Calzone, Philippe Hupé, Jean-Philippe Vert, Andrei Zinovyev, Computational Systems Biology of Cancer Chapman &  Hall/CRC Mathematical & Computational Biology, 2012 (CC BY-SA 3.0) via Commons Wikimedia

About the Author: Hasini A

Hasini is a graduate of Applied Science with a strong background in forestry, environmental science, chemistry, and management science. She is an amateur photographer with a keen interest in exploring the wonders of nature and science.

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