Chromosomal Mutations: Definition, Characteristics, Types, Advantages and Disadvantages

It is any change or error that occurs within the chromosome.

These errors can be attributed to any problem or deficiency during cellular processes, such as mitosis and meiosis.

Unlike genetic mutations that involve altering a gene or a segment of DNA on the chromosome, chromosomal mutations occur and change the entire chromosome.

There are three types of chromosomal mutations, which are:

  • Modifications in the structure of chromosomes.
  • Mutations in the number of chromosomes.
  • Mutations in the sex chromosomes.

Characteristics of the types of chromosomal mutations

Structural chromosomal mutations

This type of chromosome mutation usually happens during any mistake in cell division.

And it is when homologous chromosomes pair up, genes on chromosomes separate, genes are inserted on the wrong chromosome, or genes or set of genes are entirely lost on the chromosome.

Structural chromosomal mutations are classified into four: deletion, duplication, inversion, and translocation (or places of change).


Elimination occurs when a part of the DNA is not duplicated or lost during replication. The size of this region can be a mere nucleotide, or it can be as large as a complete chromosome.

Common disorders are Cri du chat, Duchenne muscular dystrophy, and Di George syndrome.

Duplication: This type of mutation occurs when an extra copy of a region (or regions) in DNA is produced.

This duplicated region can be present in its usual location on the chromosome or sometimes located on other parts of the chromosome or even on another chromosome.

This duplication can now supply additional material that can develop new functions.

Common disorders are Charcot-Marie-Tooth disease type I.

Inversion: A part of the chromosome is inverted and inserted back into the chromosome during inversion. There are two types of inversion: pericentric and paracentric.

During a pericentric inversion, the inversion spans the centromere of the chromosome.

On the other hand, a paracentric inversion only involves the short or long arm of the chromosome, and the point of inversion does not include the centromere.

Common disorders are amniocentesis during the gestation process of pregnancy.

Translocation: occurs when a fragmented chromosome tends to join with a non-homologous chromosome. This newly formed segment breaks off the chromosome and moves to a new position on another chromosome.

The most common disorders are XX male syndrome, Down syndrome, infertility, and cancer.

Chromosomal number mutations

Chromosomal number mutations include:

Aneuploidy: It is a type of mutation in the number of chromosomes in which the ploidy (number of chromosomes) of the new individual is different from its wild type.

This is typically the result of chromosome nondisjunction during mitosis or meiosis, thus producing offspring with extra or missing chromosomes.

The naming of aneuploid diseases is generally based on the number of chromosomes added or removed. For example, a monosomic individual (2n -1) only has one copy of one chromosome rather than two.

Other variations of aneuploidy are trisomic (2n + 1), nullisomic (2n-2), and disomic (n + 1).

Polyploidy: it is a type of mutation that occurs when an individual has more than one set of haploid chromosomes.

If the individual with polyploidy has three sets of haploid chromosomes, the condition is triploid, while if he has four groups of haploids, the state is said to be tetraploid.

Interestingly, polyploidy is a common phenomenon among plants, as well as specific groups of fish, salamanders, frogs, and leeches.

Advantages of chromosomal mutations

Random errors that occur during cell division can be beneficial to organisms. Some of them are listed below:

Survival: Mutations are essential because they help some individuals in the population to adapt to their environment while maintaining their survival.

They are also a significant force in evolution because they balance the frequency of alleles present in the population.

Some successful mutations include malaria resistance, lactose tolerance, and atherosclerosis tolerance in humans.

Diversity: mutations in chromosomes are closely connected with the variety (genetic and physical) of living organisms.

Ultimately, the close interactions between inherited mutations and environmental pressures generate diversity between species.

And, without genetic diversity, some of the fundamental mechanisms of evolutionary change cannot operate.

Examples: Since some chromosomal mutations are harmless, humans acquire different colored eyes such as black, brown, gray, green, or blue.

Disadvantages of chromosomal mutations

Some mutations can also be quite harmful. The following are some of the more common disadvantages of chromosome mutations:

  • Genetic disorder: Mutations in the chromosome can cause various genetic disorders. While most genetic disorders are rare, the severity of the error in even a tiny portion of the chromosome can be very devastating.
  • Other diseases: In addition to the inherited disorder, specific mutations in chromosomes can also cause other conditions, such as cancer of the lungs, breast, and bladder.