Research
Many of our members have been very interested in supporting researchers to advance our understanding of Emanuel Syndrome and the 11;22 translocation. For example, members have previously participated in research by sending blood samples as t(11;22) carriers;
- Long AT-rich palindromes and the constitutional t(11;22) breakpoint ; Hiroki Kurahashi, Beverly S. Emanuel
- Human Molecular Genetics, Volume 10, Issue 23, 1 November 2001
- Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint ; Hiroki Kurahashi, Tamim H. Shaikh, Beverly S. Emanuel
- Human Molecular Genetics, Volume 9, Issue 18, 1 November 2000
- Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22) ; Hiroki Kurahashi, Tamim H. Shaikh, Ping Hu, Bruce A. Roe, Beverly S. Emanuel, Marcia L. Budarf. Human Molecular Genetics, Volume 9, Issue 11, 1 July 2000
- Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22); Hiroki Kurahashi, Tamim H. Shaikh, Elaine H. Zackai, Livija Celle, Deborah A. Driscoll, Marcia L. Budarf and Beverly S. Emanuel. American Journal Human Genetics. 2000 Sep; 67(3)
Surveys
People have helped by answering surveys to contribute to the shared understanding of medical and developmental considerations of Emanuel syndrome or being a carrier of t(11;22)
- Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals ; Melissa T Carter, Stephanie A St. Pierre, Elaine H Zackai, Beverly S Emanuel, and Kym M Boycott. American Journal of Medical Genetics.
- Risk of Breast Cancer Not Increased in translocation 11;22 carriers: Analysis of 80 pedigrees; Melissa T Carter, Nicholas J Barrowman, Stephanie A St. Pierre, Beverly S Emanuel, and Kym M Boycott. American Journal of Medical Genetics.
Or by submitting photographs to help with developing technology to identify facial phenotypes.
- Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos; T. Liehr, N. Acquarola, K. Pyle, S. St-Pierre, M. Rinholm, O. Bar, K. Wilhelm, I. Schreyer. Clinical Genetics
Emanuel Syndrome Studies
From time to time, we will share information about study requests from researchers through our social media groups and encourage families to join in the efforts to expand our knowledge. There is never any obligation to participate in any of these studies.
Articles
There have been many articles written both on Emanuel syndrome (previously cited in literature as partial trisomy 11;22, supernumerary der (22) syndrome etc., as well as the 11/22 translocation.) We have compiled a fairly comprehensive list of these articles with links to either the abstract or full articles, if available. There are reports of children with ES in more than 40 countries. These articles go back several decades and show an evolving understanding of the 11q;22q translocation and the rare chromosome disorder we have come to know today as Emanuel Syndrome.
Current Studies On 11/22 and Emanuel Syndrome
If you are a researcher, please contact us to inquire about the promotion of your study to our members.