What do you know about Down Syndrome? 2026

Down syndrome is a genetic disorder caused by the presence of an extra chromosome. Human beings have 46 chromosomes divided into 23 pairs. These structures made up of DNA and proteins contain most of our genetics and only one pair of them determines our sex. Down syndrome appears due to a mutation of chromosome 21, instead of having two, a third is generated, and for this reason it is also known as trisomy 21.

This genetic disorder is the main cause of human intellectual disability. There is no obvious cause for its appearance, although it has been shown that a major risk factor is maternal age. If the mother is over 35 years old, it may occur with greater probability.

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However, it is possible to know if the fetus suffers from this problem through amniocentesis, a test that allows us to know how the baby's development is evolving by extracting a small amount of amniotic fluid to analyze the cells that surround it in the womb.

A British doctor redefined this syndrome

The first to describe the characteristics of Down syndrome was a British doctor named John Langdon Down in 1866. Initially this genetic alteration was called 'Mongolism' since it was believed that the Mongolian race was less evolved. However, in 1965, when the WHO received a formal complaint from the Mongolian delegate, it was decided to change the term 'Mongolism' to Down syndrome.

More finds in 1958

In 1958, it was known, thanks to a French geneticist, Jérôme Lejeune, that Down syndrome was a mutation of chromosome 21. It turned out to be the first chromosomal alteration found in humans.

It can also occur in animals

This mutation can occur in all mammals, therefore also in animals. Some of the common characteristics they present are eyes farther apart than usual.

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Successful studies

Although in principle this genetic alteration is associated with an intellectual deficiency, many of them manage to finish their studies successfully and even go to university. There are also cases of gifted people, since among some of their general characteristics is their high visual memory.

The RAE modified its meaning

In 2015, the Royal Spanish Academy (RAE) decided to eliminate the term disease from the meaning of Down syndrome. This change had been made before in the paper version than in the digital version, which was surprising. The modification was carried out due to a campaign organized by a mother with a child with Down syndrome through Change.org.

The definition that we can currently see in the digital version of the RAE is: 'Congenital anomaly produced by the total or partial triplication of chromosome 21, which is characterized by different degrees of intellectual disability and a variable set of somatic alterations, among which the skin fold between the nose and the eyelid stands out.'

A very normal mutation

Currently, it is estimated that in Spain there are 34,000 people with Down syndrome and a total of 6 million worldwide.

The majority decide not to have them

95% of couples who discover they are expecting a baby with Down syndrome decide not to continue with the pregnancy because they are not prepared for it. That is, 9 out of 10 decide not to have it.

Copies to fight cancer on chromosome 21

According to experts, the mutation of chromosome 21 can cause copies that could prevent the development of cancerous tumors. However, most people who suffer from this condition develop Alzheimer's around age 40.

Likewise, the life expectancy of a person with Down syndrome has increased significantly in recent decades, with the average being around 60 years.