Chromosome 22 Central

CHROMOSOME 22 CENTRAL
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS

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Chromosome 22 Central Inc. is a registered Canadian Non-Profit Organization
and Registered Charity BN# 86009 3665 RR0001, and a Registered US Corporation with Non-Profit Status

Just a few of the 100+ families who attended C22C's Niagara Picnic, July 22, 2006

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LOOKING FOR t(11;22) de novo carriers

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.

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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

US Head Office - for US donations: Chromosome 22 Central, c/o Murney Rinholm, 7108 Partinwood Drive, Fuquay-Varina, North Carolina, 27526 USA,
tel (919) 567-8167, EMAIL: bgr@nc.rr.com

Latin America / Spanish inquiries - Laura Munoz, Robinson Crusoe 1209, Las Condes - Santiago, Chile tel: 02-3251262 EMAIL: lauramuno@hotmail.com