A printed copy (or full pdf version via email) with more information, stories and photos is available by paid membership only. See below for details. 

NEWS....

*We’ve been translated into Japanese! Dr. Kurahashi of Fujita Health University of Japan has translated the info from our website on t(11;22) into Japanese! While you can’t appreciate it fully obviously unless you read Japanese, the website is here: http://www.fujita-hu.ac.jp/~genome/11&22. Many thanks to Dr. Kurahashi for doing this!

*Madison Clewes (daughter to Greg and Lisa Clewes, our Mass. Rep) was included in an article in a new Parent/Family magazine by Disney called Wondertime. The article was a series of 4 articles written about the son of friends of the Clewes family. She is in the picture with Jimmy & his mom Michelle. http://wondertime.go.com/parent-to-parent/article/jimmy-foard-part-4.html

 *A neat idea was submitted by Alex’s mum Helen of the UK – She shared a website that allows people with disabilities to “house swap” for vacations that share the same accessibility needs. Visit www.matchinghouses.com for details.  

Pronto  - traducción al español de partes de nuestro sitio web.  ¡Visítenos, porque aprarecerá en algun momento en el 2007! Y ruegue porque nuestros padres Voluntarios  tengan algun tiempo libre para hacerla.

¡Nuevo!  Hemos agregado una lista en español  de correo electrónico para familias hispano hablantes - esta lista es para  aquellas familias que posean algun integrante  con CUALQUIER alteración del cromosoma 22, al igual que es la lista del c22c.  Por favor visítela en http://es.groups.yahoo.com/group/c22ces/   ¡Unase ahora!

Cuando esperabamos a nuestro hijo Damián, tuvimos un diagnostico antenatal que él era portador de una alteración cromosómica, der 22(11;22) ahora llamado Sindrome de Emanuel. Nadie tenía información al respecto, incluso nos dijeron que no tenía ninguna esperanza de vivir. Aparte del dolor de esperar un hijo enfermo, la sensación de abandono , de no saber exactamente que esperar, de no contar con información , es terrible. Con el tiempo y como se dieron las cosas me puse a buscar en internet por mi cuenta y encontré este grupo de padres que lidera Stephanie St. Pierre desde Canadá y que reune a muchas familias con diversas alteraciones del cromosoma 22. Aquí encontré varios niños más como el mío. Por fortuna yo sabía inglés y para nosotros ha sido un gran apoyo el poder intercambiar experiencias, tratamientos, terapias, penas y alegrías, de nuestro caminar con un hijo especial. Como parte de esta agrupación y con el deseo de ayudar a otros que no tienen la posibilidad de incorporarse por la barrera del idioma, surge esta iniciativa de crear una lista al interior de la organización c22c, de habla hispana. Me ofrecí para hacerla, aunque no soy muy buena para escribir, pero con la ayuda de todos los padres que se quieran incorporar a ella podemos crear una red para aquellas familias que tengan algun miembro con alteraciones del cromosoma 22, y que necesiten apoyo e información como tambien para nosotros mismos. Estamos trabajando en la traducción de la información de cada alteración para que se encuentre disponible en la red durante el año 2007. Invitamos a todas aquellas familias que tengan algún integrante con culaquier alteración del cromosoma 22 a formar parte de este grupo, en: 

ATTENTION ALL C22C MEMBERS!

You cannot know how disappointing it is to me to find a match for a family, be it by diagnosis, geographical closeness, etc, and then try and connect people to find out that e-mails bounce and/or people have moved. I am making a concerted effort, no small undertaking let me tell you, to try and overhaul our database of families to try and update it. Since I started running this group 9 years ago, and I had no idea how large it would really become, and I am changing the way I keep track of members and want everyone to help me out by doing me a huge favour…..PLEASE take a moment out of your busy day, and fill in a copy of the membership form on our website: http://www.nt.net/a815/memform.pdf  . I have changed it to include a signature. EVEN IF you are a current, active member of the group, please submit a signed form. Don’t worry about the membership fees right now unless you can afford to pay or have already paid (we would appreciate it however!) – right now, the most important thing to me is getting our database current. I will be happy to take a faxed or scanned SIGNED form, to save you the postage.

Families who send in their forms and agree to share contact info with other members will be given new updated contact listings once I have completed the project. Thank you SOOOO much in advance!!    Stephanie

          CAT EYE SYNDROME RESEARCH

The Children’s Hospital of Philadelphia has long been involved in the study of genetic alterations of chromosome 22. With support from the National Organization for Rare Diseases, Dr. Emanuel’s laboratory is embarking on a research study entitled “Improving the Diagnosis of Cat-Eye Syndrome.”  Our primary goal for this research project is to develop and test a high-resolution, high-throughput technique to efficiently detect the duplications of 22q11.2 associated with the Cat-Eye syndrome.  We will design DNA probes from the sequence of human chromosome 22 to assess copy number differences of 22q11.2 in order to make the test readily available to molecular and molecular cytogenetic diagnostic laboratories.

We are eager to receive samples from individuals with a diagnosis of cat-eye syndrome to test the sensitivity of this new “kit.” To participate in this study you or your child must have a diagnosis of Cat-Eye syndrome on the basis of either phenotypic findings or cytogenetic analysis.

Participation will consist of providing information regarding the individual’s medical findings relevant to the diagnosis of Cat-Eye syndrome. This could, potentially be transmitted as part of a telephone interview with one of our genetic counselors.  Alternatively, this might require review of medical records.  Participants will also be asked to provide a blood sample for DNA and chromosome analysis.

Any individual with a diagnosis of Cat-Eye syndrome is welcome to participate. Another goal of the study is to document the frequency of various types of problems in individuals with Cat-Eye syndrome in relation to the amount of genetic material that is duplicated.  This will help us to investigate the reasons for different features and symptoms that are seen in individuals with Cat-Eye syndrome. If there are multiple family members with the diagnosis, we would like to involve your family in a more detailed analysis of the genetic aspects that could potentially lead to recurrence of Cat-Eye syndrome. If you would like to learn more about this opportunity or to participate in our study, please contact Donna McDonald-McGinn, M.S. at (215) 590-2920 or via email at MCGINN@email.chop.edu.

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

A VCFS study:  The risk for psychiatric disorders and genetic counseling

This is a study designed to look at the impact of VCFS on families, with particular attention to the risk of the psychiatric disorders sometimes associated with VCFS.  We are interviewing family members caring for someone with VCFS.  We are looking to learn about what information you have received about VCFS, and what information you feel would be helpful to you and to other families.  This survey includes questions about your understanding of the risks of psychiatric disorders, and whether those risks have affected the family.

The aim of this study is to learn more so that genetic counselors and other medical caregivers can improve the long-term support they give to patients with VCFS and their families.  Results will be tabulated and if you agree we will follow up with a request for an optional phone interview.

We recognize that we are asking for personal information so this questionnaire will be kept confidential.  Questionnaires will be tabulated and destroyed upon competition of this study.  

If you are interested in completing this online survey, click on the following link or post the following address to your server: 

                 www.surveymonkey.com/s.asp?u=40882854135 

You need to be over the age of 18 years old. You will first be asked to complete a consent form.  This form contains a full description of this research and can help you decide whether you choose to participate. Should you decide to proceed with completing the survey it should take you no more than 10-15 minutes.   Thank you.

Georgette Bruenner, M.S. candidate,  Sarah Lawrence College Human Genetics Program, Gbruenner36@aol.com, (516) 674-3644

OUR WEBSITE: http://www.c22c.org/ 

*Message boards
*Chat room
*E-mail lists
*Links
*Research info
*Family Stories

PERSONAL STORIES NEEDED BY SARAH

I would really love to include your personal stories in my book on non-verbal children. I’m looking for families with a non-verbal child that has an abnormality on the 22nd chromosome to submit one story/experience you’ve had when you just needed to hear them say the word “mom” or “mommy”.  Of course, I will need written permission (via electronic submission form which I can e-mail to you) to include your story in this book (as I’ll be editing it as I see fit). All names and identities will be not disclosed without written permission; however, I would like to be specific about the disorder and the age of the child and mom.  With this book, I not only want to make the world aware of Chromosome 22 abnormalities; I want to touch people’s hearts with our stories. And with any luck, portray a message of love, hope, dreams, wishes, and the reality we face as mothers with non-verbal children.  I hope to make this book a best seller into the mainstream society so others can benefit from hearing what our kids cannot verbalize.

Portions of any profits of this book will be directly donated back to Chromosome 22 Central to continue to support Chromosome 22 Central's mission to have a safe, supportive, and understanding environment for all Chromosome 22 families. Submissions are due ASAP. Please email me privately at sdakp@juno.com if you wish to participate or have any questions regarding this project. Thanks!  Sarah Patch

Don't forget that a complete newsletter available ONLY by regular mail (or full .pdf version electronically), which includes family stories, is available by paid membership only (see below).  

The 22q11.2 Deletion Syndrome International Foundation will soon be taking orders for their 2007 Faces of Sunshine Calendar. Order forms are posted under the News and Events section of their website. Visit www.22q.org directly to download an order form.

RECENTLY RELEASED JOURNAL ARTICLES

Please visit each reference page of our website for updated listings of articles on:

• Emanuel Syndrome/t(11;22)

• Cat Eye Syndrome

• Trisomy 22

• 22q11 Deletion

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. Yet another article was released last month, which continues to suggest this view. For those of you who are carriers, please do regular screening techniques. I myself recently had a mammogram. You might wish to bring this to the attention of your family physician if you have not yet already. Below is the reference for the recent and previous articles 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. 

October was breast cancer awareness month. Visit breastcancer.org for details on self-examinations.

C22C Inc. is a registered Federal Non-Profit Organization, with charitable status in Canada. Canadian donations will receive a tax receipt.

C22C Inc. (USA) is registered and currently awaiting non-profit status. We are grateful for all donations which help keep us operating! Thank you to those of you who have supported us in the past with your generosity.

If you can afford to, offer to pay a yearly membership fee. This will entitle you to a subscription to TOGETHER, which is no longer distributed on-line. It costs money to print, post, maintain our website as well as other expenses. Our suggested membership dues are:

Families 1 year - $15, 2 years, $27, 3 years, $35. Either US funds for US/International Members, or Canadian funds for Canadian members. Professionals: 1 year $18, 2 years, $34, 3 years, $45. PLEASE SEND MEMBERSHIP FEES TO OUR CANADIAN ADDRESS or us PAYPAL - link located on our website.

We have been operating for years with no mandatory fees. Please help us continue to operate and grow! Additional Canadian donations are tax-deductible and a tax-receipt will be provided. Free memberships will include as always, being listed with our network database of families, and free C22C NewsAlerts via email, offering info on upcoming events and research.