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martes, 25 de marzo de 2014

2.DOWN SYNDROME

Nowadays many people suffer from Down syndrome. These people have distinct physical characteristics, unique health issues and variability in cognitive development. The world Down syndrome day is the 21st of March. The only factor known which increases the probability of having a Down syndrome child is the mother's age (Over 44 years-old). Down syndrome is not inherited.

WHY IS DOWN SYNDROME CAUSED?

Down syndrome results when one of three types of abnormal cell division involving chromosome 21 occurs. All three cell division abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome.

There are three genetic variations that can cause this syndrome:

  • Trisomy 21 : Is the most frequent. It occurs when a human being has three copies of the chromosome 21.
  • Mosaic Down syndrome
  • Translocation Down syndrome
If you'd like to know more about the three genetic variations you can look here:

HOW CAN DOWN SYNDROME BE DIAGNOSED?

There are two types of tests available for Down's syndrome:
  • Screening tests estimates the chances of a baby having Down's syndrome.    
  • Diagnostic tests give you a definite result. These may be offered if your screening test shows you have a high risk of having a baby with a chromosomal condition.

Diagnostic tests do unfortunately carry a slight risk of failure, which is why screening tests are used first.

For further information:

CAN IT BE TREATED?

The Down syndrome has long been considered untreatable, but recent advances in neuroscience and genetics are starting to raise the prospect of pharmaceutical interventions. There are now several clinical trials of drugs trying to improve memory and learning in adults with Down syndrome. Other labs are trying by inactivating the extra chromosome.

Extra information here:


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