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NEW! Released January 2010 - Risk of Breast Cancer Not Increased in Translocation 11;22 Carriers: Analysis of 80 Pedigrees - Free access available online  PDF VERSION  or HTML VERSION

Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals - Free access available online: Click here for PDF format or here for HTML version
If you have landed at this site, you have probably been told that your beautiful child has been born with a condition called Emanuel Syndrome. You have also likely been told that you or your partner is likely a carrier of a balanced 11/22 translocation. You have also probably been told it's very rare. You are not alone. Children with Emanuel Syndrome make up about 15% of the members registered with our support group, Chromosome 22 Central.

Since 1996, families have begun to find each other and we are learning more and pushing for awareness of this genetic condition. We hope we answer many of your questions on this site, and want you to join our group of growing families.

Emanuel Syndrome was a term established in 2004, to honour the significant contributions of researcher Dr. Beverly Emanuel. It is a name given to children born with an unbalanced 11/22 translocation, a condition typically caused when one parent has a balanced translocation between chromosomes 11 & 22. It has been seen in the literature as partial trisomy 11;22, and the Supernumerary der(22) Syndrome. 

We look forward to sharing what we have learned from each other with you. There is power, strength and comfort in numbers! Please join us: info@emanuelsyndrome.org

Visit www.c22c.org for links to message boards, family stories, ways to connect, and more!

 

 

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