What is Down's Syndrome?

What Does Down's Syndrome Mean

The so-called Down syndrome appears in one in every 800 individuals, a statistic that shows that it is one of the most common genetic birth defects . It is, according to experts, a combination of defects, mental retardation , typical features, heart problems and other health disorders .

This syndrome is generated from the development of an extra copy of chromosome 21 or a portion of it . This condition owes its name to John Langdon Haydon Down , who described this genetic alteration in 1866 . In any case, it must be said that the first researcher to notice that the syndrome was caused by a transformation of chromosome 21 was Jérôme Lejeune .

Typically, each subject has 23 pairs of chromosomes (that is, 46 chromosomes in all). The pair is made up of a chromosome inherited from the mother's egg and another from the parent's sperm. Those affected by Down syndrome have one other chromosome 21, that is, they have 47 chromosomes in total. This disorder is also known as trisomy 21 , since individuals have three chromosomes 21 instead of two.
Among the main characteristics that define a person who suffers from this syndrome, we can state that there are a flat-type facial profile, short and wide neck, an ogival-type palate, a notable separation between the first and second toes, folds of skin in what is the inner corner of the eyes and a notable deviation in what is the fifth finger of the hand.
It must be stated in addition to all the aforementioned that there is a large number of pathologies that are associated with those who suffer from this aforementioned Down Syndrome. Specifically, among the most frequent are congenital heart diseases of various kinds, vision disorders, gastrointestinal disorders or hearing disorders.
Specialists say that children with Down syndrome can lead a life similar to that of any infant, even if they take longer to learn things. In recent decades, society has taken an inclusive stance towards those affected by this disorder, and many people with Down syndrome have even entered the labor market.
It should be noted that Down syndrome cannot be cured and there are no ways to prevent it .
It is noteworthy that throughout history there have been many artistic, cinematographic and literary works that have addressed this congenital and genetic defect. In the case of cinema, for example, we can highlight productions such as Life and Color . In 2005 was when Santiago Tabernero released this film that revolves around a teenager who has a friend with Down syndrome who has suffered a lot in life and from whom he will learn many things.

In the literary field, on the other hand, we find works such as The girl who never grew up by Pearl S. Buck, The message of the birds by Joan Manuel Gisbert, Flowers for Algernon by Daniel Keyes or The broken eyes by Almudena Grandes.

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