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EMANUELSYNDROME.ORG

Information on the 11/22 translocation and
Emanuel Syndrome
Sponsored by Chromosome 22 Central


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Dr. Beverly Emanuel's group is trying to examine the mechanism of the t(11;22) translocation to understand how it happens. They especially want to find out whether it can happen in female meiosis as well as in male meiosis. In order to do this, they look at samples from new translocation carriers, which are rare. They need to study individuals who have the balanced translocation, but neither of their parents is a carrier or they can study individuals who have an Emanuel Syndrome affected child and neither of them is a carrier. These are what are called de novo cases. Thus, if there are any de novo carriers willing to participate in research please email me at steph.stpierre@gmail.com


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RESEARCH

Since our group began, we have been very interested in advancing research and awareness on Emanuel Syndrome and the 11;22 translocation.


t(11/22) GENE EXPRESSION STUDY:

Dear study contributors and other interested parties,

Firstly, I would once again like to thank you all for your interest and contribution to the
t(11;22) gene expression study. I have been amazed by the response the study received and
the number of people wishing to be involved and I am extremely grateful to everybody.

I have now moved jobs and am based back in the UK. Whilst I am continuing to work
with the t(11;22) and Emanuel syndrome samples I received, I can no longer accept any
new ones as I do not have ethical approval for this in my new position. Whilst I cannot
accept new samples, I am of course still happy to be contacted by anyone with questions
or enquiries, whether previously involved in the study or not. I have no problems with
sharing results with those not involved in the study (obviously, there will be no personal
information provided in these results).

My new contact details are:
Louise Harewood, Babraham Institute, Babraham Research Campus, Cambridge, CB22
3AT, UK. Email: louise.harewood@babraham.ac.uk.

Thank you again and best wishes,
Louise.


Regarding 11/22 and Breast Cancer

Those of you who have been a part of our group for a period of time will be aware of past articles which have suggested a link between breast cancer and being a carrier of the 11/22 translocation. Here are references regarding this. While our own study with Dr. Carter in 2010 showed there was no increased risk, breast cancer is common enough and women should be aware of this risk and perform regular self-screening and mammograms as suggested by their physicians.

1. Wieland I, Muschke P, Volleth M, Ropke A, Pelz AF, Stumm M, Wieacker P.  High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11). Genes Chromosomes Cancer. 2006 Oct;45(10):945-9. 

2. Jobanputra V, Chung WK, Hacker AM, Emanuel BS, Warburton D. A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer. Prenat Diagn. 2005 Aug;25(8):683-6. 

3. Lindblom A, Sandelin K, Iselius L, Dumanski J, White I, Nordenskjold M,  Predisposition for breast cancer in carriers of constitutional translocation 11q;22q. Am J Hum Genet. 1994 May;54(5):871-6. 

4. Carter MT, Barrowman NJ, St Pierre SA, Emanuel BS, Boycott KM. (2010) Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees. Am J Med Genet A. 152A(1):212-4