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Join our main support list MESSAGE BOARDS FAMILY STORIESC22C INTERNATIONAL PARENT CONTACTS LEARN ABOUT
NEWSLETTERS DOWNLOAD A .PDF COPY OF OUR BROCHURE - SPREAD THE WORD! Chromosome 22 Central Inc.
is a registered Canadian Non-Profit Organization See our research page regarding current 11/22 studies MORE ON t(11;22) outside of our site...
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EMANUEL
SYNDROME Emanuel Syndrome has also been known in the medical literature as the Supernumerary Der(22) Syndrome, trisomy 22, Unbalanced 11/22 Translocation or partial trisomy 11/22 For basic information on t(11;22) in other languages: French | German | Dutch | Spanish | Swedish | Japanese
Several of our children suffer from recurrent infections; respiratory, ears, etc., and some have compromised immunity serious enough to require treatment. Many of our new young children have issues with feeding. Some of our children require to be tube fed. A link to a full list of abnormalities in this disorder is listed below, which I compiled from an extensive list of journal articles dating back to the early 1970s.(Updated April 2008). When my daughter Maia was born in March of 1995, there was very little information on this disorder. Most of the articles I was given by my genetics counsellor dated back to the 1980s. They gave very grim reports about children affected. Our support group began initially in September of 1996 with a handful of t(11;22) families and was termed "The International 11;22 Translocation Network", but has since grown. After I began my website, which was simply one page, hoping to find others, that families with other chromosome 22 disorders began to contact me. A need was shown for a more all encompassing group, and thus Chromosome 22 Central was born. Our foundation however, is based on families dealing with the t(11;22) and as of early 2008, we have had close to 200 families dealing with t(11;22) connect with our group, identifying about 175 children affected with the unbalanced version of this translocation, Emanuel Syndrome, and over 300 carriers of the balanced translocation, dealing with miscarriage, fertility issues, or looking for information on pregenetic diagnosis (PGD) with invitro fertilization (IVF) . We have heard of a few sets of twins affected with Emanuel Syndrome, and a few families where the carrier parent presents as a "de novo" carrier - where neither of that person's parents appears to carry the translocation. (These may be cases where the balanced translocation is present in the father's sperm only, but he is otherwise tested to be negative as a carrier of the balanced translocation, a discovery Dr. Emanuel and colleagues presented in the October 2001 journal, Nature Genetics ). Prior to our group forming, this disorder did not have an actual "name", but often appeared in the literature as partial trisomy 11;22 (or even just trisomy 22, and has even been mislabled as Cat Eye Syndrome in one article) but was most often referred to as the Supernumerary der(22) syndrome. It was during our group's participation at the World Conference of Chromosome Abnormalities in San Antonio Texas, sitting around the dinner table at a Mexican Restaurant, that several of our families discussed our desire to have a name for our children's disorder, something meaningful and provide us with an identity. A convincing set of letters to the editor of OMIM resulted in, finally, our children's disorder being listed, with a name to reflect the significant research contribution of, and support of our group members by Dr. Beverly Emanuel. More recently, in April of 2007, Dr. Emanuel, Dr. Zackai and Livija Celle, all of the Children's Hospital of Philadelphia, wrote an entry for Geneclinics at the request of our group, so that there would be a more recent, clinical overview of the disorder. Our group is indebted to Dr. Emanuel and her colleagues, for without their input, advice and support over the years, new families would have a much more difficult time finding relevant and current information. I have tried to make an unheard of disorder easier to find, so that new families can find immediate support and information. Our group is now in collaboration with doctors at the Children's Hospital of Eastern Ontario in a research project studying the natural history of the disorder. (See below for details). One of the dangers of doing your own Internet research is trying to understand very difficult or new ideas and not knowing what is important for you or not. Many people have inquired and been under the false assumption, of being at risk for Ewing's Sarcoma, a type of cancer involving a translocation between chromosomes 11 & 22. This is a DIFFERENT type of 11/22 translocation, and if you are a t(11;22) balanced carrier, or your child has Emanuel Syndrome, it does not mean there is a risk for this type of cancer. The translocation in Ewing's Sarcoma is found within the tumour itself, and has different breakpoints. There have been some reports that have suggested t(11;22) carriers may be at an increased risk for breast cancer, but this has yet to be definitively proven (see below for articles). *Click here to read an article on the t(11;22) disorder by Dr. Beverly Emanuel, who has been studying this disorder since 1976. *Click here for a list of issues found in children with Emanuel Syndrome. *Click here for A GRAPHIC DESCRIPTION OF T(11;22) *Click here to understand THE GENETICS OF T(11;22) *Click here to view photos of our children (send me yours if you want it added!) *Click here for the EMANUEL SYNDROME( trisomy 11q;22q) GENE REVIEW ENTRY (Posted April 2007) * SEE OMIM ENTRY for Emanuel Syndrome (Renamed in 2004) * READ ABOUT 35 FAMILIES IN OUR GROUP *Click here to read about DEVELOPMENT AND PHYSICAL ABNORMALITIES IN T(11;22) CHILDREN * Click here for a REFERENCE LIST OF T(11;22) ARTICLES 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. 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 .
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. To do this, I will be distributing
a survey for the parent or guardian to fill out. The survey will ask
questions about the child's birth, health, behaviour, and abilities.
When I have gathered all of the information, there will be a summary
published in a medical journal, as well as on this website.
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 one or both of these studies,
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 have a child with Emanuel syndrome, living or
deceased, and/or if you carry the 11;22 translocation.
Thanks
very much.
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
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HEAD OFFICE - for ALL inquiries:
Chromosome 22 Central, c/o Stephanie St-Pierre, 237 Kent Avenue, Timmins,
Ontario, Canada P4N 3C2 tel/fax: (705) 268-3099, EMAIL: steph.stpierre@gmail.com
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