Welcome to Illinois

The Genetics of Down’s syndrome

Posted in Charities, Genetics, Scientific research by Matt at WelcometoIllinois on October 19, 2008

Our membership pack from the Down’s Syndrome Association arrived yesterday and is rammed full of interesting and helpful literature, including a booklet on “The Genetics of Down’s Syndrome”.

It is the best explanation of the subject I have read an includes background details on cells, genes and chromosomes and cell division, as well as an explanation of the different types of Down’s syndrome and how they occur.

The genetics of Down’s syndrome is one of those areas that I am confident I understand as I read or hear about it but find it almost impossible to explain in my own words later.

At some stage I will write up my understanding of the genetics on this blog with the hope that it helps me to truly take it in and be able to articulate it properly.

I am far too hungover for that today to be completely honest, so for now I will point out that the booklet it available for purchase from the Down’s Syndrome Association, while an online version is available to read here.

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7 Responses

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  1. Illinois Mom said, on October 19, 2008 at 10:52 pm

    As a card-carrying member of Illinois, both state and genetic, may I say welcome and congratulations. Another source of great information to gain from our fair state is http://www.gigisplayhouse.org. I am a coordinator for a literacy program with this organization. Our students, including our youngest at 3 with DS, are doing amazing things. Also check out Signing Times http://www.signingtimes.com. It is a sign language video series that truly changes lives. By providing a language in that critical 0-3 years time frame, sign language seems to lessen the cognitive delay experienced when a child has no language during this time. I’m sure this is the reason my daughter already knows her letters and can sign and sing the alphabet song.

    Best of luck to you and your family. It has been a great adventure!

  2. Rickismom said, on October 20, 2008 at 12:27 am

    Yes, I also founf that booklet quite clear and helpfull (or an earlier version of it…)

    Be aware, though, that sometimes you getquite complicated karyotype-genotypes, generally from translocation….a bit beyond the scoope of the booklet. But for non-research purposes, the info from the booklet is enough.

  3. welcometoillinois said, on October 20, 2008 at 5:56 am

    Thanks for the info Illinois Mom, Gigi’s Playhouse looks great. Shame we are only metaphorically in the state of Illinois.

  4. welcometoillinois said, on October 20, 2008 at 5:58 am

    Thanks Rickismom,

    We had a blood test to see if our little boy has regular Trisomy, translocation or mosaic but we haven’t had the results back yet. Once we have I’m sure I’ll be doing a lot of further reading.

  5. Illinois Mom said, on October 22, 2008 at 4:43 am

    Feeling a bit like the Welcome Wagon or a director of tourism, but there is another Illinois resident you must know about. He is an artist who happens to have Down syndrome. His paintings somehow capture hope right on the canvass. You can see his paintings at http://users.psln.com/sharing/Michael/mainMichael.html
    Thanks to his work, he has donated so much money to non-profits that his story was included in a book on philanthropy that also features Bill Gates and Oprah Winfrey. He helped us raise over $4,000 for our literacy program and a special needs caregiver/child class we started this fall.

    So, despite the weather, the fact that our Governors’ retirement plans seem to include jail time, and that we are ranked dead last of the 50 states in special needs spending and services, (or maybe because of all that) Illinois has a lot of creative and innovative families making it happen. I think you made a wise choice for your website name.

  6. welcometoillinois said, on October 22, 2008 at 6:00 am

    Thanks again!

  7. […] I never did write that follow-up to this post on the genetics of Down’s […]


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