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Trisomie 21


What is that?

Trisomy 21, also known as Down syndrome, is not a disease, but an anomaly of the genome. This means that the 21st chromosome exists 3 (instead of two) times in each body cell.

It is therefore not a gender effect.

Most of the time it is a spontaneous new mutation, this means that this mutation arises accidentally or for no apparent reason. 95% of all people affected have a so-called free trisomy and it is therefore by far the most common variant of the chromosome disorder.

The consequences of such a mutation have different effects, in this case mental as well as physical.

The visual appearance manifests itself in many cases in such a way that these people have a flattened back of the head, slightly sloping eyes with a delicate skin fold on the inner corner of the eye, a flatter or wider nose root, mostly they are somewhat smaller, often have broad hands with short fingers Etc.

The mental expression is expressed in such a way that these people often have learning difficulties and simply need longer to understand or learn things. The language is often a bit late and sometimes it is also difficult to understand - this is often related to the physical circumstances (narrower ear canals, wider tongue, etc.)

The intellectual abilities are somewhat limited, but this does not prevent these people from leading an independent and often very self-determined life. A lot also depends on how they are funded.

The health consequences also have very different forms. They include a very common heart defect (in almost 40% of those affected), malformations in the digestive tract, increased susceptibility to infections, sleep-related breathing disorders, increased risk of leukemia, epilepsy, autoimmune diseases etc.

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