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There's no "Down syndrome gene." The syndrome arises due to a chromosomal disorder, so the most widely tool used to see if one has it is performing a karyotype.

Also, there are many features typical of people with this syndrome that any physician can recognize. These are: a) a single transverse palmar crease, b) an almond shape to the eyes caused by an epicanthic fold of the eyelid, c) upslanting palpebral fissures, d) shorter limbs, e) poor muscle tone, f) a larger than normal space between the big and second toes and g) protruding tongue.

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Q: What test can be done to see if I have the Down syndrome gene?
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Can Down Syndrome be prevented by testing couples blood?

No. Parents of Down Syndrome typically are normal genetically and there is no test for parents to determine the possibility of a Down Syndrome offspring. There are no known external factors that are known to contribute to Down Syndrome. It is possible to test for Down Syndrome in the fetus.


How do you know you have Down syndrome?

a test is usually done in pregnancy which identifies the condition. people with Down syndrome have an extra chromosome. people with down syndrome usually have impaired cognitive ability and typical facial characteristics such as an oversized tongue and are usually small in stature


When you are 27 weeks into your pregnancy can they tell you if your baby has Down syndrome?

Yes, there are blood test that they can do to check for different birth defects, including down syndrome. If your dr hasn't done that yet, and you are concerned, you may want to talk to him/her about it.


Is there a prenatal diagnosis or test for Down syndrome?

Yes there are examination that can determine that a fetus has down syndrome.. called amniocentesis.


Why is it not possible to use the FBNI gene to diagnose Marfan syndrome?

It is presently not useful as a diagnostic test because there is evidence that there can be mutations in the fibrillin gene that do not produce Marfan.


Will a laboratory test for Down syndrome pick up marijuana in your system?

If the test for this syndrome is a blood test then, maybe. A blood test will detect marijuana. A urine test will also detect marijuana.


What is he best way to test before pregnancy if the child will have Down syndrome?

Amniocentesis


What medicines can be taken for dravet syndrome if you test positive for the scn1a gene?

A combination of stiripentol (diacomit), clobazam (frisium) and depakote has been the most successful combination for my son who has Dravet syndrome. You can get an overview of the syndrome and see information on research at www.dravetfoundation.org.


Are there any medical facilities in Cape Town that can test whether a person's children will have Down syndrome?

You could try to get more information from the Down syndrome organizations in South Africa: 1) DSSA (Down Syndrome South Africa); and 2) the Down Syndrome Association of the Western Cape. Click on the Related Links below.


What is one method to diagnose a genetic disorder such as Down syndrome?

Get a blood test at the doctor.


What week is Down syndrome found?

There are two tests which can locate Down's Syndrome. Amniocentesis, the standard test, gives results during the 14th to 16th week of pregnancy. The second test, Chorionic villus sampling, provides results in the 10th week.


How do you diagnose turner syndrome?

The diagnosis is confirmed with a blood test to look at the person's chromosomes so it can be seen if the second X chromosome is missing. This test is done after a doctor notices the person has characteristics associated with Turner syndrome.