DOWN SYNDROME O Trisomy 21
Disease information
DOWN SYNDROME O Trisomy 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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