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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
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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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