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Join our main support list MESSAGE BOARDS FAMILY STORIESC22C INTERNATIONAL PARENT CONTACTS LEARN ABOUT
NEWSLETTERS DOWNLOAD A .PDF COPY OF OUR BROCHURE - SPREAD THE WORD! Chromosome 22 Central Inc.
is a registered Canadian Non-Profit Organization RESEARCH OPPORTUNITIES CAT
EYE SYNDROME RESEARCH The
Children’s Hospital of Philadelphia has long been involved in the study
of genetic alterations of chromosome 22. With support from the National
Organization for Rare Diseases, Dr. Emanuel’s laboratory is embarking on
a research study entitled “Improving the Diagnosis of Cat-Eye
Syndrome.” Our
primary goal for this research project is to
develop and test a high-resolution, high-throughput technique to
efficiently detect the duplications of 22q11.2 associated with the Cat-Eye
syndrome.
We will design DNA probes from the sequence of human
chromosome 22 to assess copy number differences of 22q11.2 in order to
make the test readily available to molecular and molecular cytogenetic
diagnostic laboratories. We
are eager to receive samples from individuals with a diagnosis of cat-eye
syndrome to test the sensitivity of this new “kit.” To participate in
this study you or your child must have a diagnosis of Cat-Eye syndrome on
the basis of either phenotypic findings or cytogenetic analysis. Participation
will consist of providing information regarding the individual’s medical
findings relevant to the diagnosis of Cat-Eye syndrome. This could,
potentially be transmitted as part of a telephone interview with one of
our genetic counselors. Alternatively,
this might require review of medical records.
Participants will also be asked to provide a blood sample for DNA
and chromosome analysis. Any individual with a diagnosis of Cat-Eye syndrome is welcome to participate. Another goal of the study is to document the frequency of various types of problems in individuals with Cat-Eye syndrome in relation to the amount of genetic material that is duplicated. This will help us to investigate the reasons for different features and symptoms that are seen in individuals with Cat-Eye syndrome. If there are multiple family members with the diagnosis, we would like to involve your family in a more detailed analysis of the genetic aspects that could potentially lead to recurrence of Cat-Eye syndrome. If you would like to learn more about this opportunity or to participate in our study, please contact Donna McDonald-McGinn, M.S. at (215) 590-2920 or via email at MCGINN@email.chop.edu. Cedars-Sinai
Medical Center is a world leader in the study of genetic conditions. The
Department of Medical Genetics at Cedars-Sinai Medical Center, in
conjunction with support from the National Organization for Rare Diseases,
is conducting a research study involving individuals with a 1)
A review of medical records, limited only to those records that address
issues and treatment related to the diagnosis of cat-eye syndrome. 2)
A telephone interview with one of the study coordinators to discuss
your/your child’s history and quality of life issues. Any
individual with a diagnosis of cat-eye syndrome is welcome to participate.
The study coordinators are particularly interested talking with
individuals that are age 10 or older. The purpose of the study is to
document the frequency of various types of problems in individuals with
cat-eye syndrome as they get older. The
researchers are also interested in investigating the reason for the
different symptoms that we see in individuals with cat-eye syndrome. If
there are multiple family members with the diagnosis, we would like to
talk with your family about a special part of the study that involves
detailed |
(can be referred to as CES, Partial Trisomy (22pter-22q11), Partial Tetrasomy (22pter-22q11) or Inverted Duplication (22qter-22q11) or Schmid-Fraccaro SyndromeCat Eye Syndrome is a very rare malformation involving Chromosome 22. The short arm (p) and a small section of the long arm (q) are present three (trisomic) or four times (tetrasomic) instead of the usual two times. The additional chromosome 22 usually arises spontaneously (de novo), though it has been reported to have been passed down in families, and some reports show the parents as mosaic for the marker chromosome but who show no phenotypic (outer) symptoms of the syndrome. The chromosomal area included in the Cat Eye Syndrome "critical region" is 22pter-->q11. The first association of the common abnormalities common to CES was established over 100 years ago (1898) by Haab, and first described in association with a small marker chromosome in 1965 by Schachenmann. A first report of a familial tisomy 22 pter-->q11happened in 1972 by Buhler et al. Early reports of Cat Eye Syndrome discuss the possibility of chromosome 13 involvement. Now, CES is considered to be present with the chromosome 22 trisomy findings. 22q11.2 is a very unstable region of chromosome 22, which is involved in other syndromes, such as 22q11 deletion ( a microdeletion of that area of the chromosome) and supernumerary der(22) syndrome, also known as trisomy 22 or partial trisomy 11/22. This is what chromosome 22 looks like:
CLINICAL FEATURES MAY INCLUDE:
Read an article written by Rayna Cordova, mom to a child with CES. OMIM Article on Cat Eye Syndrome NORD entry (purchase full text on site) CAT EYE SYNDROME REFERENCE ARTICLES
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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 US
Head Office - donations only: Chromosome 22 Central, c/o
Murney Rinholm,
7108 Partinwood Drive,
Fuquay-Varina, North Carolina, 27526 USA,
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