In order to understand what this post is about, you will probably have to read an earlier post about TAR Syndrome, and whether or not Emma actually has it, plus some background material. Please read this post about Emma's first visit with Dr. Paley, and the following medical article (well, skim it at least, the medical jargon may be hard to wade through!).
To summarize, the medical article is by Dr. Eva Klopocki and other members of her research group in Germany; they say that they studied 30 people with TAR Syndrome and ALL of them have a certain microdeletion on the 1q21.1 chromosome. This microdeletion is apparently necessary for TARS, but not sufficient, because some of the relatives of those with TARS also had the same deletion but did not exhibit the signs of TAR Syndrome. So there must be at least one more genetic modifier that is present in those with full-blown TAR Syndrome (which they haven't found yet).
So, because of the fact that Emma has the diagnosis of TAR Syndrome, yet has a partial radius on the left side, there was some question as to whether or not she actually has TARS. The original criteria established by Dr. Judith Hall for a diagnosis of TARS called for complete bilateral absence of the radii. So the German group was very interested in Emma, and wanted to test her for the 1q21.1 microdeletion. On 1 December 2008 Emma had blood drawn at CHLA and sent off to Germany for DNA testing.
I just received the following email from Emma's pediatrician at CHLA:
This week I rec'd the report from Dr Klopocki's office confirming a microdeletion on chromosome 1q21.1 which is found in individuals with TAR syndrome. I would like to send you the original report if you don't mind giving me your current address again-not in the computer yet (?)
So it would appear that Emma does have TAR Syndrome! But I will email Dr. Judith Hall (the doctor who gave the Syndrome its name in 1969) and ask her if this is the proper inference to draw from these results.
Another VERY interesting connection....which just goes to show you that it really is a small world! Eva Klopocki was the fifth author on one of the medical papers on Gomez-Lopez-Hernandez Syndrome that I have posted on the "Medical Articles" link on the right hand side of this blog (schell-apacik07_GLH.pdf). I emailed one of her colleagues, Dr. Stefan Mundlos, with the information that Emma may have GLH Syndrome as well as TAR Syndrome, but he did not respond. Perhaps I should email Dr. Klopocki?