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Down's Syndrome

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The so-called Down's Syndrome appears in one of 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, with Mental retardation , typical features, heart problems and other disorders for Health .

This syndrome is generated from the development of a 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 the year 1866 . Anyway, it must be said that the first investigator to warn that the syndrome was caused by a transformation of chromosome 21 was Jérôme Lejeune .

Usually every subject It has 23 pairs of chromosomes (that is, 46 chromosomes in total). The pair is formed by a chromosome that inherits from the mother's ovum and another from the sperm of its parent. 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 suffering from this syndrome, we can state that there is a flat facial profile, short and wide neck, an ogival palate, a notable separation between the first and second toes, folds of skin in what is the inner edge of the eyes and a notable deviation in what is the fifth finger of the hand.

It is necessary to expose in addition to everything mentioned that there is a large number of pathologies that are associated with those who suffer from this Down syndrome. Specifically, among the most frequent are congenital heart diseases of various kinds, vision disorders, gastrointestinal disturbances or disorders in what is hearing.

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, the society He has taken an inclusive stance on those affected by this disorder, and many people with Down syndrome have even joined the labor market.

It should be noted that Down syndrome it cannot be cured nor are there ways to prevent it .

It is noteworthy that throughout history there have been many artistic, cinematographic and literary works, which 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 it was when Santiago Tabernero premiered this film that revolves around a teenager who has a friend with Down syndrome who has suffered a lot in life and from which he will learn many things.

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

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