SYNDROME OF DOWN Or TRISOMÍA 21

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	SYNDROME OF DOWN Or TRISOMÍA 21
	*SYNDROME OF DOWN Or TRISOMÍA 21*

SYNDROME OF DOWN Or TRISOMÍA 21

Syndrome of Down or trisomía 21

Chromosomic anomaly that gives like result the appearance of 47 chromosomes instead of the 46 habitual ones, by the existence of three copies of the chromosome I number 21 instead of the two normal ones.

The additional chromosome completely changes to the ordered development of the body and the brain.

Diagnosis and treatment

Diagnosis

The diagnosis is made few days after the childbirth taking blood samples of the foot from new born that are sent to the Centers of Molecular Biology; where the genetic study becomes.

Treatment

There is no treatment for the disease, except for avoiding the opportunistic diseases or treating these on time.

Complications

The system of immunological defenses usually is seriously it jeopardize, reason why any disease can affect more seriously than to any normal person.

The infantile infectious diseases, the meningitis and in general all the organic affections that attend with inflammation and infection, are more serious in these patients.

The life expectancy (duration of the same one) is shortened, independently of the mentioned complications, by unknown cause, possibly genetic.

Prognosis

The affection of syndrome of Down have a relatively short life, with a variable mental retardation, being able to take to life utilities and beneficial for themselves and the others; mainly if they find suitable affective and intellectual the surroundings.

Prevention

Genetic analysis (and tests as the amniocentesis or the biopsy of corion) in the embarrassed mother to determine the presence or not of genetic diseases - including trisomía 21- in the first weeks of pregnancy.

Causes

They are not known.

One of each 800 to 1,000 children is affected by this chromosomic malformation.

It can happen to any age of the pair, but the more aged she is the woman at the moment of the conception the more possibilities has of which the son the present, mainly as of the 35 years of maternal age.

Signs and symptoms

50 exist more than described although it is rare that they appear all. Most characteristic they are:

Lack of muscular tone.

Eyes extended with the skin folded in the tip of the eye (denominated epicanto or it folds mongoloide, to remember the present in the Eastern populations).

Hiperflexibilidad of members and extremities.

Small and wide hands with a single wrinkle in the palm.

Wide feet and short fingers.

Bridge of the flattened nose.

Small ears.

Short neck.

Small head.

Short weeping and chillón in the childhood.

They are people with low intellectual coefficient, but great affectivity.

Factors of risk

The relation between the maternal age and the syndrome of Down has already commented; at the most outpost is first, increase the possibilities.

Other factors of risk have not been determined.

It is an individual alteration of the sexual cells, reason why its presence does not mean that the subsequent pregnancies have to be affected unavoidably.

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