Sunday, October 3, 2010

What is Down Syndrome?

This month is Down Syndrome Awareness month, and there is a challenge for bloggers to blog something new about Down Syndrome every day of this month. The challenge is called 31 for 21. The 21 stands for Trisomy 21, people who have Down Syndrome have a third copy of  chromosome 21, rather than 2. 

I don't really have time to blog everyday, but I do think it is a very neat thing to do. So, I may blog some about it, or take excerpts from other blogs. I think we will all learn something from this. 

The following is from this blog


The name Down syndrome comes from the man who first described it, Dr. John Langdon Down.  There is no 'S' after Down in Down syndrome because Dr. Down does not own the syndrome, it is just named after his last name of Down.


There are three types of Down syndrome: Trisomy 21, Translocation Ds and Mosaic Ds. 

Trisomy 21 means the person diagnosed has three separate copies of chromosome 21 in every cell of their body. 

Translocation Ds means the person diagnosed has three copies of  chromosome 21 but the third copy of the 21st chromosome is attached to another chromosome instead of being separate.

Mosaic Down syndrome means there are three copies of the 21st chromosome is only some cell lines throughout the body and not in others.  Some people with Mosaic Ds have the third copy only in the blood line and not in the skin, marrow, brain, etc.,  while other people may have the extra copy in the brain and bone lines and not in the blood, muscle, etc.

Down syndrome is nothing to be afraid of.  It is simply a medical diagnosis with symptoms that may need attention like any other medical diagnosis.  People who have been diagnosed with Down syndrome do not 'suffer' from it, they are just regular people living with a medical diagnosis and thriving through life with it.

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