Down syndrome

By: Catarina

What other names are there for this disorder?

this following are other name for this mutation:

What causes the disorder?

Body cells usually contain 23 chromosome pairs. One chromosome in each of it pairs come from each parent. Down syndrome is caused because it replicates 3 times the chromosome 21. A normal child would only replicate this chromosome only 2 times. It can also occur when the chromosome 21 attaches (translocate) to another chromosome, before or even at the conception


What gene or chromosome is affected by this disorder?

the chromosome affected is the chromosome #21, But sometimes it translocate to other chromosomes too.


Are there prenatal tests for this disorder?

Down syndrome can be test prenatally or postnatally, meaning before or after birth. There are two types of test to detect down syndrome a screening test, and a diagnostic test. A screening test looks what is the chance of the offspring having this mutation. This procedure uses ultrasound to measure the clear (translucent) space in the tissue of the back of the baby´s neck. Babies with abnormalities tend to accumulate more fluid at the back of their neck during the first semester of pregnancy, making this clear space to be larger than average. Based on the size of the clear space, scientists can predict a chance of Down Syndrome. Meaning It is not a matter of categorical decision of yes or no. The test gives levels. If the offspring has a high chance of having down syndrome, it is offered a diagnostic test. The diagnostic test for Down Syndrome is based on DNA examination that can be also done during pregnancy through a procedure called amniocentesis in which a small amount of amniotic fluid (the liquid surrounding the baby in the mother’s belly), which contains fetal tissues, is sampled and the fetal DNA is examined for genetic abnormalities.

Then this test see if the baby has the mutation or not.


What are the symptoms?

What population is affected? Can anyone be a candidate for the disorder?

The population in general could have down syndrome. So anyone is candidate for this disorder. However older parents ( older than 40 years) have a higher risk of having an offspring with down syndrome.

How is it inherited?

95% of the times down syndrome is not inherited, it is not passed from parent to offspring. It is an error made when an egg or sperm is made. Occasionally parents can pass genes that is more likely that there kids will have down syndrome. But scients are not sure about this theory.


What kind of medical assistance will the affected child need? Will further assistance be needed, as the child grows older? What is the long-term outlook for the child?

Children with down syndrome have a higher chance of medical problem since birth. Such as heart defects, obesity and leukemia. They will need assistance for sure. Children with down syndrome need a lot of cognitive and motor stimulation. In the long term they have a higher chance of dementia ( a disorder where people forget about things that just happened like where they put something). Also they have a lower life expectancy, even despite improvement in medicine.

Are there any treatments or cures?

There is not even one single cure for down syndrome. But children with down syndrome can receive proper (special, individual) treatment.


Could this disorder have been prevented?

There is nothing that can prevent the offspring to have this mutation. But the parents can be warned before the child's birth, to get the resources available for the offspring condition


Can this individual have children in the future? Will those children be affected?

In the past, it was believed that males with Down syndrome were unable to have babies. Basically doctors believed them to be infertile. However, there have been at least two documented cases where the paternity of a man with Down syndrome was confirmed. Since men with Down Syndrome are living more, and dating more, we will have more data in the near future on this issue. Scientific data also document that approximately 50% of women with Down syndrome are fertile.

What is the current status of research on this disorder? Is there a cure coming soon?

scientist are research to have new methods, techniques, and improvement of your knowledge and understanding of these disorder. There are researching more about the inheritage of this mutation. This research has already had a lot of advances. Unfortunately this type of cure is not likely anytime soon. Probably it won't cure people who already have this disorder. But if scientist catch the mutation very early it might work. The problem is that is really hard to turn off a chromosome.


down syndrome day was 21 of march!

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As you can see, for 2 people with Down syndrome having babies, the chances are as follows:

-25% chance their child will be typical (no Down syndrome)

-50% chance their baby will have Down syndrome

-25% chance there will be no viable pregnancy
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