Mosaicism down syndrome, also known as mosaic Down syndrome, is one of the rarest types of down syndrome. It is a genetic condition that arises from an extra chromosome’s appearance in a person’s DNA. If you want to know all about mosaicism, this article will provide you with the necessary information that you are looking for. Please keep on reading to learn more.


An Overview of Down Syndrome

DNA is a network of complex molecules that contains all the necessary information that builds up an organism. Humans typically have twenty-three pairs of DNA chromosomes, making up a total of forty-six. These chromosomes are responsible for telling how our cells will grow and develop.

Sometimes, a baby is born with an extra copy of their twenty-first chromosome. When this happens, the baby will have a particular condition known as trisomy twenty-one down syndrome. This excess chromosome is a genetic feature that may come from either the parents’ sperm or egg cell.


What Is Mosaicism Down Syndrome?

In mosaic Down syndrome, a human DNA has a mixture of normal and abnormal cells. They have special cells containing a replicate of the twenty-first chromosome, but they also have normal cells that come in twenty-three pairs.

If a baby has a diagnosis of mosaicism, they may have a slight similarity with babies with trisomy twenty-one syndrome. However, babies with mosaicism may have fewer health issues overall. There are still very few studies about mosaicism in comparison with the typical down syndrome. Nonetheless, several kinds of research are still ongoing.


What Are the Characteristics of Mosaicism?

identifying mosaicism

Mosaicism is a term popularized by doctors and specialists. They use it to describe the mix of cells in the person’s body. For someone that has mosaic down syndrome, only some of their cells have an extra chromosome. You can identify a person with mosaicism by knowing some of the following characteristics:

  • Eyes that slat in an upward angle, often almond-shaped.
  • A shorter neck length than the average.
  • Facial features are nearly flat, particularly in the nose bridge area.
  • They have a smaller length of ears than the average.
  • The appearance of white or semi-white spots on the iris.
  • Loose muscle capacity and poor tone.
  • Shorter height and slower maturation.
  • Tongue often sticks out.


What are the Chances of Developing Mosaicism?

Mosaicism down syndrome can develop as soon as conception takes place. The extra copy of the twenty-first chromosome starts even before a fetus will form. However, some studies show that these additional chromosomes may develop at a much later stage of conception. When this happens, there is a likelihood that only mild abnormality will develop.

Unfortunately, years of study and research are still not enough to identify the specific factors contributing to the development of genetic anomalies. Some reports claim that maternal age has something to do with it. In an article published by the Centers for Disease Control and Prevention, women who conceive in the late stages of adulthood, or those in thirty-five years or older, have a higher chance to have children that have down syndrome.


Diagnosis of Mosaicism

A down syndrome diagnosis involves tests that identify a person’s genetic material. One of the most common forms of diagnosis is through blood sampling. A doctor or specialist will draw blood from the patient and isolate cells and detect their composition. This procedure is necessary to check the prevalence of the twenty-first chromosome.

If all of the patient’s cell structures contain a replicate, the condition is trisomy 21 down syndrome. On the other side, if only some of the cells show a copy while others do not, they have a mosaic down syndrome.

Additionally, the doctor may request an additional test involving brain cells and skin cells. These tests are essential to confirm that the diagnosis is indeed correct.


Management of Mosaic Down Syndrome

The conditions of a person with mosaic down syndrome vary. Some have intense characteristics and personalities, while some have unnoticeable features. Depending on the individual’s situation, a specialist often recommends several management therapies.


Physical Therapy

how to manage mosaicism

If a child that has mosaicism experiences weak muscle and bone strength, physical therapies are necessary. This treatment will improve the child’s quality of life and promote their overall health.


Speech and Language Therapy

Children that have mosaicism develop difficulty in speaking and communicating. Talking to a specialist can help improve and enhance a child’s social skills.


Diagnostic Exams

Your doctor or pediatrician may ask for additional tests to prevent other health concerns. In some cases of mosaicism, a child develops complications, particularly in their heart and lungs.


The Bottomline

Mosaicism down syndrome is a rare yet manageable health condition. Even though there are anomalies in the person’s genetic structure, they still can function correctly. With the right treatment plans and support, it is possible to improve their mental and physical abilities and live their lives to the fullest.

Lastly, it is essential to talk to your doctor about possible complications relating to mosaic down syndrome. While there are fewer chances of physical concerns, early detection of potential health concerns will help extend life expectancy.


Refer to these articles for further readings:

What is mosaic Down syndrome?

Mosaic Down Syndrome.

Medical Encyclopedia-Mosaicism.

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