Trisomy of chromosome 21 or down syndrome
this is a kind of abnormal set of chromosomes, which chromosome set of a man is 47 instead of 46 chromosomes. This is due to the split of one chromosome from the whole set of chromosome 21.
Any definitive causes of the disease is difficult to detect, as is the case with other chromosomal abnormalities. However, there is a clear dependence of the maternal age and the likelihood of having a child with this disease, the younger the mother, the less likely to give birth to a sick child. The relationship between the probability of the risk of the disease of the child and the father’s age less obvious. External environmental factors also play a minor role on the impact of the risk of down syndrome.
Down syndrome is characterized by the following symptoms
- mental retardation
- flat face without obvious emotion, like a mask
- a small nose and a big tongue
- fingers, upper and lower limbs short
- mental underdevelopment
- slightly open mouth.
These symptoms are different patients have varying degrees of severity. People with down syndrome rarely live more than fifty years.
In most cases, to identify down syndrome, the child did not make any difficulties. In the event of their occurrence, applies methods of genetic testing.
Diagnosis of down syndrome in the fetus
- the use of ultrasound for specific signs of the syndrome
- the use of amniocentesis analyzes the amniotic fluid that take by piercing the abdominal wall
- chorion biopsy a capture of placental tissue with a special needle for further investigation by piercing the wall of the abdomen.
The latter 2 methods of diagnosis is very high risk of complications, but a more accurate diagnosis. You should use these methods in special cases as high likelihood of miscarriage of the fetus. Use them if you already have a suspicion of down’s syndrome baby, if the mother is older than 35 years or if the family has been the presence of the syndrome. Also, for disease diagnosis of down syndrome, possible
in the medical industry.
Any specific treatment of down’s syndrome does not exist, use a variety of special programmes for children in order to correct mental development.
- the disease is dangerous the following consequences
- half of patients are unable to have children, the rest there is a high risk of acquiring this syndrome in children
- children with down syndrome are mentally handicapped
- social adaptation is more difficult than in healthy children, the majority of sick children are in closed social groups
- in most cases, patients with impaired immunity, which can lead to other complications of pneumonia (inflammation of the lungs) and death
- the duration of life of patients mainly, not more than 50 years.
To prevent this disease is impossible, yet there are no methods of prevention of down syndrome.