Emanuel Syndrome - Our beginnings

Translocation of the 11th and 22nd chromosome can result in a disorder known most commonly as partial trisomy 11;22. It has also been known as Trisomy 22, Supernumerary der(22) Syndrome, or unbalanced 11;22 translocation. The children who are born with Emanuel Syndrome (which is usually inherited from a carrier parent) have an extra or  "marker" chromosome, 47 instead of the usual 46, made up of the upper (p section) and part of the lower (q section) arms of chromosome 22, and a small portion of the lower (q section) arm of chromosome 11. The children can have several problems, which include mental, medical and physical handicaps. The most common of the problems associated with unbalanced 11;22 translocation are cleft palate, heart defects, ear anomalies, genital anomalies in males, muscular hypotonia (low muscle tone) and moderate to severe mental deficiency. The symptoms can vary greatly from child to child. Some of the children can be very severely affected medically, or have very few medical issues. There have been children I am aware of who are able to speak in full sentences and/or walk well, yet others who are unable to walk, and are non-verbal. ALL children experience developmental delay. It is impossible to know when your child is diagnosed what their prognosis will be. A researcher is attempting a gene-expression study to develop a better understanding of why our children vary (see research link).

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 under "issues our children face" 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 preimplantation genetic 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 there, 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 Medne, 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.

This diagram explains how the child receives the unbalanced translocation from the parents