What is Mosaicism?

It is not uncommon for us to hear about different mutations that occur in different ways in many people. But despite this, there are still several types that are not well known by people in general and that can scare some when they know that your child may have them.

The mosaicism is not one of those very famous genetic conditions, but occur more often than many realize. It is a condition where the individual receives two genetic materials in the same zygote, resulting in a type of mosaic of genes, hence the name.

But how does this mutation occur? Is it the same for everyone who has it? What are the consequences that mosaicism brings to a person’s life? What characterizes this mutation? Are there any health risks? It was with all these questions in mind that we decided to explain in detail about all aspects of mosaicism in today’s text.

How is it formed or mosaicism?

Mosaicism is still formed during pregnancy, when the number of chromosomes in a given cell is changed. In genetics, this phenomenon is called a mosaic. It occurs most often in reproductive cells, but it can occur in any other cell in the human body . There are different types of mosaicism and they are defined according to the cell in the body that is changed.

Types of Mosaicism

There are basically two types of mosaicism, the germ line and the somatic. As we said earlier, the type depends on which cells in the person’s body have had their chromosome number affected.

Let’s talk more deeply about each of the types so that all the differences between the two are very clear. We will also talk about mixed mosaicism , which is not exactly one type, but a combination of the two previous types.

Mosaicism of Germinating Strains

This type of mosaicism occurs when the alteration occurs only in gametic cells, that is, only in reproductive cells. Whoever has this type of mosaicism does not present any of the mutation characteristics, since only their reproductive cells have this alteration.

However, it is very possible that, if the person has children, they are born with some condition resulting from this mutation of the reproductive cells of one of the parents. However, it is very difficult to calculate the percentage of the risk of this happening and if it can happen to one or all children, as this can vary a lot depending on each case.

Somatic Lineage Mosaicism

This is the type of mosaicism that affects any other cell that is not reproductive . In this type of manifestation of this condition, mosaicism symptoms may or may not appear, that is, there are chances of it being asymptomatic. Symptoms, when they appear, are linked to the area of ​​the body where the cell mutation occurred.

The development of different types of cancer can occur due to somatic mosaicism, since the disease is nothing more than the excessive reproduction of cells of a certain tissue in the body.

When a person has this type of mosaicism, it can happen that the mutant cells that are being reproduced excessively kill the healthy cells, causing the person’s health to be at serious risk.

Mixed Mosaicism

It occurs when the person has both mosaicism of germinating lineages and mosaicism of somatic lineage. The characteristics are the same as the other two types, causing the person to have some symptom in the affected body part and also have the reproductive cells affected by this condition.

Risks of Mosaicism

In addition to the risk of developing cancer, as we have already mentioned in the topic above, mosaicism brings with it other risks to the health of the person who has this type of mutation. When a woman is pregnant, for example, the chances of her having a miscarriage or the fetus malforming are greater.

In addition, the mosaicism may also cause growth problems, various types of syndromes such as Turner syndrome , the Down syndrome McCune-Albright, Proteus syndrome, Pallister-Killian syndrome and other effects that can be health risks of the person affected by this type of mutation.

The prevention of mosaicism occurs from the assessment of family history, since it is a genetic disease. Still, it is not possible to know exactly whether the child that will be born will or will not have this mutation or in what part of the body it will manifest.

The good news is that studies on this mutation have come a long way and perhaps in the near future this will no longer be a major problem.

It is always important to understand about all aspects that involve any type of mutation, since it is something that can be part of anyone’s life . But, as we said earlier, there are different mosaicisms and at different levels.

And with that the risks change, as well as the way that each individual needs to deal with this condition. Despite all the risks, it is possible to lead a pleasant and peaceful life, although special attention is needed so that there are no major problems.

Always having a health professional accompanying this condition is necessary and helps a lot for you to learn how to deal with mosaicism.

See also: Tourette’s Syndrome – Symptoms and Treatments

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My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.

Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.

Dr. Alexis Hart

My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother. Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.

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