My second email to Dr. Hall

Dear Dr. Hall,

Thank you very much for your reply.

I believe that you are referring to the study reported in Klopocki et al, 2007 (AJHG 80, 232)? Both you and Dr. Mundlos are co-authors on that paper. I came across the paper many months ago and gave a copy to Emma's geneticist, Dr. Yano, at USC Women and Children's Hospital. This is exciting research and it would be wonderful if Emma could somehow contribute to this! I will definitely get in touch with Dr. Mundlos.

Unfortunately I don't know the answer to your question about chromosome studies. I suspect that Emma has not had any genetic studies done to date, as her doctors at USC have been quite satisfied with the diagnosis of TAR Syndrome, knowing that (at least, until Klopocki et al) there was no known genetic test that would confirm this diagnosis.

I think it's very important now that they test her to confirm or rule out the microdeletion on the 1q21.1 chromosome reported in your study, given the partial radius bone discovered by Dr. Paley.

Also, I should let you know that, after Dr. Paley told us about his surprise finding in Emma's left arm, I sent out an electronic plea to the Yahoo TAR Support Group for anyone with a diagnosis of TAR Syndrome who may have a partial radius on one or both sides to email me and let me know.

I received two positive responses:

a) The first was from the mother of a girl who has an abnormally low IQ. This girl was born with TWO partial radii! But her orthopedic surgeon removed them, saying that the bone fragments might become infected if left in place!? This girl is a teenager/young adult, and her mother reports that she has never been tested to see if her low IQ might be due to an intracranial bleed or to some other cause.

b) The second was from a young woman who reported that one of her friends with TAR Syndrome has a partial radius bone. She says her friend is a young married female who has a child with the diagnosis of TAR Syndrome as well.

Could this possibly be phenotypic variation?

I will keep in touch with you and let you know what happens after I contact the research group in Germany. I have a website that I recently created for Emma which is not yet public (it's still a work in progress)...here is the URL, if you'd like to "meet" Emma:

http://planetemmaclarissa.blogspot.com/

You can see that Emma is very special in many ways. :-)

Thanks again,
JoAnn