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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.

Currently, our group (Chromosome 22 Central) is participating in a survey based study of several of our group members who have Emanuel Syndrome, as well as for carriers of the t(11;22) (We are still looking for balanced t(11;22) carriers, please email us if you are interested in completing a survey for us!)

 

Natural History of Emanuel Syndrome: A Questionnaire Study
 
My name is Dr. Melissa Carter. I am a Medical Genetics Resident at the Children's Hospital of Eastern Ontario, in Ottawa, Ontario, Canada.  Along with Dr. Kym Boycott and Stephanie St. Pierre, with input from Dr. Beverley Emanuel and Dr. Elaine Zackai, I am doing a study on the natural history of Emanuel syndrome. 
 
The primary aim of this study is to gather information on as many people with Emanuel syndrome as I can.   When I have gathered all of the information, there will be a summary published in a medical journal, as well as on this website. We have already completed the survey phase of this study, so check back for updates.
 
I am also doing a study of families carrying the 11;22 translocation. There is a separate questionnaire for this study, to be filled out by the parent who carries the translocation.  This survey will ask questions about you and your family members' health.  I am particularly interested in the proposed increased risk of breast cancer in translocation carriers.  There haven't been enough families studied yet to know if this is a true association or just a coincidence.
 
If you are interested in participating in the t(11;22) carrier study, please contact Stephanie St. Pierre at steph.stpierre@gmail.com or myself, Dr. Melissa Carter at mcarter@cheo.on.ca.  You can participate if you carry the 11;22 translocation. 
 
Thanks very much.

Dr. 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


t(11/22) GENE EXPRESSION STUDY:

I am a post-doctoral researcher at the University of Lausanne in Switzerland and am setting up a study to look at the effect of the t(11;22) translocation on gene expression in both balanced translocation carriers and individuals with the der(22) chromosome.

I will be looking at the genes in the region of the breakpoints on both chromosome 11q23 and 22q11. The main aim of the study will be to determine the differences in the expression of these genes between cytogenetically normal individuals, balanced translocation carriers and individuals with the der(22) chromosome. The results from this study will hopefully provide us with a deeper understanding of the cause of the developmental problems associated with Emanuel syndrome.

I am seeking individuals or families with the t(11;22) balanced translocation and those with the der(22) chromosome. Individuals wishing to be involved in the study will be asked to supply a blood sample and sign a consent form. All information will be treated confidentially.  For more information about the study, feel free to contact me: Louise Harewood, Center for Integrative Genomics, University of Lausanne, Genopode Building, CH - 1015 Lausanne, Switzerland Tel: +41 (0)21 692 39 67  e-mail: Louise.Harewood@unil.ch  


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.

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. 

 It is suggested that balanced 11/22 carriers be aware of this fact and screen regularly.


 

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