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December 11, 2009

What Are We Doing This Holiday Season?

One of my clear worklife missions is to see the best treatment and cure for autism. In particular, I would like to see more research into chromosome 15q duplication syndrome. This also answers the question about what we are doing for our clients, suppliers and vendors. In their name we are giving this year.

During this holiday season we are donating, on behalf of our clients, to a number of charities and causes. The principal charitable donation will go to this group.

So for those who have asked, please take a look at www.dup15q.org and look at some of the literature and beautiful faces associated with this disorder.

Chromosome 15q

Chromosome 15q duplication syndrome (dup15q) is a clinically identifiable syndrome which results from duplications of chromosome 15q11-13.1 These duplications most commonly occur in one of two forms. These include an extra isodicentric 15 chromosome, abbreviated idic(15), or an interstitial duplication 15. When the extra genetic material comes from the paternal chromosome, a child may have normal development. However, when the duplicated material comes from the maternal chromosome, developmental problems are often the result. In most cases of chromosome 15q duplication syndrome, the chromosome duplication is not inherited, but occurred as a random event during the formation of reproductive cells (eggs and sperm).

It is important to acknowledge that there is a wide range of severity in the developmental disabilities experienced by individuals with dup15q syndrome. Two children with the same dup15q chromosome pattern may be very different in terms of their abilities. Reviews of the scientific literature do not show an obvious correlation between the size of the duplication region and the severity of the symptoms. However, the following features are found in most individuals with dup15q to some degree.

Thanks for asking. One beautiful boy who will be supported by this research is below.

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Posted at 10:49 AM in , , ,

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