History of Emanuel Syndrome and C22C
Learn more about the History of Emanuel Syndrome – how it was named, whom it is named after, and how our founder Stephanie started this organization.
Since 1996, we have learned of several hundred children with Emanuel syndrome and are aware of hundreds of carriers of the balanced t(11;22). Much of the information on this website has been obtained from our families, published medical reports, as well as results from a 2009 study on children with Emanuel syndrome and t(11;22) carriers by Dr. Melissa Carter and colleagues
.
Our children are amazing! If you have ever read a medical article on Emanuel syndrome, you will not read that some of our children have some reading ability and can do very basic math…have learned to skip rope, dribble basketballs, ride horses with assistance and even have earned a yellow belt in Taekwondo!
History of Chromosome 22 Central
In 1995, Maia was born to Stephanie and Martin, in Alberta, Canada. Stephanie had four previous miscarriages and no knowledge that she was a t(11;22) carrier. Maia was identified at three months of age, as having unbalanced 11/22 translocation, or as it was then known, supernumerary der(22) syndrome and Stephanie was subsequently identified as a carrier.
Stephanie went on a search for others. In 1996, a group of 17 families came together who had children with what they suspected was the same condition (then known as supernumerary der(22) syndrome) and created The International 11;22 Translocation Network. She then discovered the work of Dr. Beverly Emanuel and they met for the first time in Philadelphia in the year 2000.
Chromosome 22 Central
The natural evolution of the group came to be inclusive of all chromosome 22 disorders and was renamed Chromosome 22 Central after so many families found the original website and had children with different chromosome 22 disorders, but no place online to call home. Stephanie’s husband answered a call from a family in Israel one day, handed her the phone and stated, “It’s like chromosome 22 central around here!” The name stuck.
Who we support and represent
Our organization supports families in over 40 countries who have members with various chromosome 22 disorders, but our core group of members stemmed from families raising children with what is now known as Emanuel syndrome.
Articles and Literature
Articles on the unbalanced 11/22 translocation (a.k.a Supernumerary Der(22) syndrome) date back to the 1970s. Even earlier reports in the 1960s and early 1970s describe some cases of “trisomy 22,” a distinct condition that was confused with der(22) syndrome in the early days of chromosome analysis. Punnett et. al., (1973) is one such report. While not able to be conclusive due to the limited technology of the time, these reports likely describe children with unbalanced t(11;22) translocation, now known as Emanuel syndrome.
Historically, the medical literature has offered many different terms for this disorder. Families found it difficult to connect with each other because of the different names given to their child’s condition. Many of the clinical symptoms seen in our children are also found in children who have trisomy 11q. The condition was reported by many different names through the years including:
- Trisomy 11q
- Partial trisomy 11q
- Unbalanced 11/22 translocation
- Cat Eye syndrome
- Trisomy 22
- Partial trisomy 22
- Partial trisomy 22q
- Partial trisomy of 11 & 22
- Trisomy 11/22
- Incomplete trisomy 22
- Supernumerary der(22),t(11;22) syndrome
- Supernumerary der(22) syndrome
- Der(22)t(11;22)
- Supernumerary chromosome derivative (22)
- Chromosome 11;22 translocation
All of these reports were about children who shared a similar phenotype – observable physical features – which included findings like low set and abnormally shaped ears, cleft palates, small jaws, heart defects and other common physical findings, along with an extra derivative (22) chromosome.
Dr. Beverly Emanuel
While numerous reports have been published about t(11;22) and the unbalanced syndrome, one researcher, Dr. Beverly Emanuel, a geneticist at the Children’s Hospital of Philadelphia/University of Pennsylvania Medical Centre, has been consistent in her work on the subject. Several of our group members have participated in her studies. She and her colleagues were the first to describe the mechanism by which the chromosomes of a t(11;22) carrier get wrongly sorted into egg and sperm cells so that the extra derivative chromosome ends up causing problems. Dr. Emanuel’s laboratory has studied the DNA sequence of the derivative chromosome and discovered that all individuals have identical pieces of chromosome 22 and chromosome 11 switch places.
Chromosome 22 is particularly prone to rearrangement because of DNA sequences called PATRRs (palindromic AT-rich repeats) found along the q arm. This area is also involved in the development of other chromosome 22 disorders, including Cat Eye syndrome, the more common 22q11.2 Deletion syndrome, and the 22q11.2 Microduplication syndrome. It has also been involved in a recurring translocation with chromosome 8.
Emanuel Syndrome is Properly Recognized
The name given to the disorder in 2004, Emanuel syndrome, was chosen by our parent group to reflect the consistent contributions of Dr. Beverly S. Emanuel. Her long-standing dedication to research on t(11;22) dates back to the early 1970s and continues to this day. Her research has been invaluable in helping us understand why this translocation happens. Dr. Emanuel’s work, along with her support of our efforts to get information out to the public, made it easy for our group to request her name be given to this relatively rare condition. “Emanuel syndrome” was welcomed as a unifying name for our families, and is being adopted by the medical community as new articles are published using this name.
Prior to Dr. Emanuel’s involvement, this condition did not even exist as an entry in the National Library of Medicine’s database, “Online Mendelian Inheritance in Man” (OMIM), which is a database of human genes and genetic syndromes. This entry was added to OMIM in November of 2004, with the ID number 609029 at our groups request, It was our first step in getting this condition not only named, but properly recognized.
In 2007, Dr. Emanuel and colleagues wrote an article for GeneReviews, an expert-authored database of genetic conditions, also through the National Library of Medicine. Emanuel syndrome did not have an entry prior to this time. The new entry offered families current information on genetic counselling as well as an overview of the condition.
A Game Changing Study is Published
The largest study ever conducted on people with Emanuel syndrome was done in 2009, titled Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals, by Melissa T Carter, Stephanie A St. Pierre, Elaine H Zackai, Beverly S Emanuel, and Kym M Boycott. It was published in the August 2009 edition of the American Journal of Medical Genetics. It was a landmark paper that gave current and accurate information about the condition, which was something that had been lacking. This paper was invaluable in getting information to families and their treatment providers.
Between 2009 and 2022 there have been more than 50 new articles released describing cases of Emanuel syndrome. Our group continues to try to keep up with the latest information in order to get it into the hands of our families, as well as the information we gather from being in touch with each other.
Raising Awareness
In between these milestones, we have had opportunities to meet other members in special C22C “family reunions”. We have tried our best to educate each other and the public about this rare chromosome disorder.
