What is Chromosome Mutation?

Chromosome mutations are changes to one or more chromosomes in an individual. These changes can be passed on to the descendants. Such mutations can result in diseases, malformations or disabilities.

What are chromosome mutations?

Different changes to a chromosome are possible. This is due to the fact that chromosomes break apart and mutations can occur. There are seven types of chromosome mutation: In the case of deletion, part of a chromosome is lost.

The term “translocation” implies that chromosomes break apart and therefore lose pieces that attach to other chromosomes. In the case of duplication, part of the chromosome is duplicated because the broken part of another chromosome has been incorporated. Inversion is when a chromosome breaks twice and parts of it are reinserted in the wrong order.

In addition (or insertion), a chromosome has an extra piece. A fusion, on the other hand, means that two chromosomes merge. The opposite is also possible: if a chromosome falls apart at its centromere, a fission is the result.

What these mutations have in common is that they are structural changes that are passed on to descendants if they are passed on to daughter cells. Some of them can be made visible with a light microscope. The chromosome mutation must be distinguished from the gene mutation in which only a single gene is changed. Such changes can have a variety of causes:


Various factors influence the genetic make-up of individuals. It is known that radiation such as radioactive radiation or UV radiation can change genetic information. But temperature changes such as cold shocks or very high temperatures can also have effects. It has also been shown that toxins such as nicotine, alcohol and other drugs can potentially damage the genetic make-up.

Mutations can also trigger viruses such as rubella or chickenpox, as can gases such as ozone or industrial emissions. Research over the past decades has also shown that not only does genetics influence the individual, but also the experiences that the individual makes can bring about a lasting change in the genetic make-up that is passed on to the offspring.

In this respect, lifestyles as well as the social and material environment have an impact on genetic information and can lead to breaks on or in chromosomes. Finally, the breaking of chromosomes can also be due to chance, without a cause being ascertainable. The factors that trigger a mutation are known as mutagens. The changes usually have negative consequences for those affected.

Symptoms, ailments & signs

The symptoms, complaints and signs that arise as a result of one or more chromosome mutations are completely different. The key question is which chromosomes have changed and how. It is known that numerous diseases, disabilities and malformations can be traced back to chromosome mutations.

These can affect the physical, mental and / or spiritual area. The best-known example of the consequences of a chromosome mutation is the translocation trisomy. This is a form of trisomy 21 (Down syndrome). Parts of chromosome 21 are tripled because part of one chromosome has attached itself to another chromosome.

The consequences are serious: those affected are more or less mentally restricted, have characteristic external features such as a below-average body size, slanting eyes, a tendency to be overweight, small ears and short fingers. Many have congenital heart defects or digestive problems.

Most cannot live independently and die earlier than the population average. Many work in sheltered workshops and have to be looked after intensively. Other examples of the consequences of a chromosome mutation are the cat-cry syndrome or Huntington’s disease (St. Vitus’ dance).


It is always advantageous if an appropriate diagnosis for diseases, disabilities and malformations is made as early as possible. This makes it possible to intervene therapeutically in a timely manner. Depending on the nature of the consequences of the change on or in chromosomes, the course of the disease varies. Intellectual disabilities, for example, cannot be reversed.


Chromosome mutations can lead to a wide variety of diseases. This also includes mutations in the human genome that can trigger neurodegenerative diseases. These are diseases that damage the nervous system. Such diseases include Alzheimer’s disease, Huntington’s disease and Gerstmann-Sträussler-Scheinker syndrome.

These diseases are characterized by the toxic accumulation of various proteins. This takes place in neurons, which is why movement is impaired or other functions such as memory are disrupted. To date, these diseases can only be treated marginally. As the disease progresses, patients need more help in order to cope with everyday life, including full-time care.

These diseases usually all lead to the death of those affected. Furthermore, mutations in the DNA can lead to different forms of cancer. It is a disease that can occur in any tissue in the body. Due to a disruption of cell growth, uncontrolled cell growth occurs.

In this case, the affected area is removed or radiation therapy is given. Patients will need additional treatments depending on which tissue is affected. This can be a tedious process, especially because a cured cancer can break out again in the future. Therefore, regular checkups are important.

When should you go to the doctor?

In many cases, a chromosome mutation can be diagnosed before birth. Pregnant women should definitely make use of the preventive examinations offered and make an additional appointment with the gynecologist in the event of complications or an uncomfortable feeling.

If malformations, disabilities or illnesses become noticeable after the birth, an immediate diagnosis by a doctor is required. Most of the time, this happens routinely. However, sometimes signs of a chromosome mutation are not detected until later.

In any case, immediate medical diagnosis and treatment is necessary, otherwise serious complications can develop. Parents who experience symptoms of a heart defect or digestive system disorder in their child should consult their pediatrician immediately.

In the case of severe malformations or disabilities, psychological advice must also be obtained – initially only for the parents and in later life also for the child concerned. An emergency doctor should be consulted if complications arise, such as the child being unable to breathe properly or showing the first signs of dehydration.

Treatment & Therapy

However, if there is a mental handicap as with trisomy 21, those affected can be met with the best possible support as early as possible. This means that they are individually involved socially according to their needs. This also applies to intellectual disabilities based on another chromosome mutation.

Since those affected often also have physical problems, these must also be observed and treated at an early stage in order to enable them to lead a largely normal life. Treatment and therapy must always be based on the individual case and the given problem. The aim is always that individuals with an innate chromosome mutation and the resulting restrictions can live as independently as possible and participate in social life.

Depending on the severity and treatability of the restrictions, this can make different steps and measures necessary: ​​The spectrum ranges from casual care to accommodation in a nursing home. It should be noted that those affected depend on a helpful social environment and early therapy right from the start.

Outlook & forecast

A chromosome mutation cannot be cured with the current possibilities. The prognosis can therefore be described as unfavorable. For legal reasons, interfering with human genetics is currently prohibited in our society. Medicine therefore only has the option of relieving individual symptoms through the inherited mutation.

Depending on the effects on physical health, it is increasingly possible to achieve an improvement in health. Although there is still no cure, life-prolonging measures have become significantly more successful in recent years. Numerous therapy methods have also been developed that lead to an immense improvement in the quality of life in many diseases.

As soon as a person with a chromosome mutation produces offspring, he passes his genetic defect on to the next generation. The effects can, however, be very different. In many cases, parents and children have the same illnesses and complaints. The offspring can also experience significantly stronger or weaker symptoms.

In some people, the existing chromosome defect does not lead to any impairment. Nevertheless, it is there and in turn can lead to a completely different health picture in your own children. In addition, there may be other diseases that contribute significantly to the general state of health.


Accordingly, the question arises of how harmful changes to the genetic makeup can be avoided. In principle, it can be said that preventive measures are hardly possible. However, it has been proven that women over the age of 40, for example, have a high risk of having a child with Down syndrome or other hereditary defects.

It is also known that avoiding certain environmental and pleasure poisons is helpful. If in doubt, prenatal diagnostics can provide information about the child’s health.


In the case of a chromosome mutation, follow-up care options prove to be relatively difficult in most cases. These symptoms cannot be completely prevented or treated by a doctor, so that the follow-up measures are very dependent on the precise treatment of the disease. A chromosome mutation cannot heal independently, so that the person concerned is always dependent on treatment by a doctor.

If the person concerned wishes to have children, genetic testing and counseling can also be carried out so that the disease does not recur in the descendants. The symptoms of a chromosome mutation can be alleviated relatively well through special and intensive support. Above all, the parents and relatives of the patient are asked to support them in order to enable the person concerned to lead an ordinary life.

However, in severe cases, patients must be in a nursing home when relatives cannot fully take care of the care. The life expectancy of the person affected may also be limited by this disease. Since a chromosome mutation can also lead to malformations or malformations, these can also be corrected by surgery.

You can do that yourself

There are no possibilities for self-help in the event of a chromosome mutation. This is because the chromosomes (and their damage) cannot be influenced in any way. One can only try to deal with the resulting clinical pictures. The oncogenes that occur occasionally can lead to cancer, for example, which in turn requires completely different self-help measures. The same applies to trisomies.

Chromosome mutations that are already present at birth because they emerged from one of the two germ cells often lead to considerable impairment in the individual. The mutations are often lethal if they do not only affect a small cell center. Accordingly, all self-help measures are also omitted here. Only medical help can be useful, insofar as the damage that occurs is treatable.

In people who have clinical pictures that can be traced back to such mutations, an examination of the germ cells can be a good help in family planning. After all, all chromosome mutations are inheritable insofar as they also occur in the germ cells. These cells can be tested accordingly in order to minimize possible risks in family planning.

Since trisomies can also be traced back to chromosome mutations and these usually occur more in the germ cells with increasing age, preventive examinations can also be useful here.

Chromosome Mutation