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Chromosome 22
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Kim, 22q11 Deletion


Caleb, age 9
22q11 Deletion Syndrome

allison and andrew

Allison with baby Andrew
Both with 22q11 Deletion


Crystal, age 2
Cat Eye Syndrome


Colin, 9 months
Emanuel Syndrome


Cat Eye Syndrome


Jessica, adult
Mosaic Trisomy 22


Malori, 3 years
22q11 Deletion


Makily, age 7
Emanuel Syndrome


Payton, 9 months
22q11 Deletion


Vienna, 9 years
22q11 Deletion


We are happy to help spread the word about studies that are of interest to C22C community members. Email Stephanie if you would like to post a study on this page.

The University of Newcastle, Australia, seeking participants have a sibling with 22q11.2 deletion syndrome /VCFS who are aged 12 years or older to participate in the study. You must live in the Sydney or Hunter regions of NSW. Click for full information.

Posted July 19, 2015

The Stress Cognition and Affective Neuroscience Laboratory (SCAN Lab) at the University of New Orleans, in Louisiana, is currently seeking a Military family with a child between the ages of 1 and 2, with 22q11.2 Deletion Syndrome, in order to conduct a longitudinal case study, with the potential to help inform the general population with regards the early stages of the syndrome, and development, as neurological, behavioral and the cognitive critical period is in its prime action.

 Compensation for time and dedication is being considered and will depend on Grant funding, however a pre-screening is done online and donation of the family time is highly appreciated. Potential participants are welcome to e-mail me @ tbegault@uno.edu or to contact me through phone @ (504) 275-7489, phone calls and text messages are more than welcomed!   Tatiana Sofia Begault

In Addition the SCAN Lab currently seeks Louisiana children from the ages of 8 to 14 years old, with 22q.11.2DS to participate in current research. We provide every assistance possible in order to have your collaboration. Feel free to contact us through our web site: http://labs.uno.edu/scanlab/contactUs.html 

Posted June 24, 2015


Are you a father of a child with 22q11.2 Deletion syndrome? The University of Newcastle is interested in your experiences of well-being, coping styles, and access to support, as well as your level of growth since your child’s diagnosis. If you want more information, or would like to complete the questionnaire, please follow this link   http://www.findlab.net.au/are-you-a-father-of-a-child-with-a-genetic-syndrome/

Posted June 7, 2015

Stanford University School of Medicine is seeking participants with the 22q11 deletion for a stem cell model study - and who are between the ages of 18-40. Download FLYER HERE for more info.

Posted May 2015

UCLA Center for Autism Research and Treatment: Cognitive function and Brain Structure Research Study for children with 22q11.2 Duplication - Click here for flyer.

UCLA Center for Autism Research and Treatment: Brain Struction and Function in Genetic Disorders - for those ages 18 and over with 22q11.2 deletion syndrome. Click here for flyer.

Posted September 4, 2014

22q11.2 Deletion Syndrome (Velocardiofacial Syndrome), Cognitive Function and Brain Structure Research Study


This current research study, conducted jointly by investigators, Carrie Bearden, Ph.D., Departments of Psychiatry and Biobehavioral Sciences and Psychology, Katrina Dipple, M.D., Ph.D., Departments of Human Genetics and Pediatrics, and Christina Palmer, Ph.D., Department of Psychiatry and Biobehavioral Sciences, aims to examine emotional adjustment, thought processes such as memory and attention, and brain structure and

activity in children and adolescents with 22qDS, as compared to children and adolescents without the disorder. The study also aims to determine whether variation in the specific genes affected by 22qDS is related to differences in brain structure, function and behavior. By repeating the assessments at two follow-up visits (1 and 2 years later) we will be able to determine how brain structure and function changes over time in individuals with 22qDS.


Baseline participation may take between one to two days (~7 hours for all study procedures). Participants will be given paper and pencil and computer tests of memory, attention and logic, and interviews about their mood, thoughts and behaviors by a trained staff member at the UCLA Center for Cognitive Neuroscience, and an MRI scan at UCLA’S Brain Research Institute. These tests will help us to learn more about how the brain works in people with 22qDS. The study also involves a review of medical records, to get information about birth and medical history, and an optional blood or saliva sample obtained from both you and your child, to determine whether thegenes affected by 22qDS may be related to differences in how the brain works. Some of the study procedures will be repeated at 2 follow-up timepoints. All procedures will be explained carefully and all participation is completely VOLUNTARY. You maywithdraw from the study at any time. There is no financial obligation on the part of the participant.Participants will be compensated up to $260 for full participation in all of the study visits. If after the initial evaluation it is determined that you are not eligible for the study you will be compensated $20 for your time. There are minimal risks involved with participating in this study.


1. Your child is between the ages of 6-30

2. Your child has a confirmed diagnosis of 22q11.2 deletion, via FISH test

3. Your child has not been diagnosed with a disorder of the brain or nervous system (such as epilepsy, encephalitis, brain tumor, etc.)

4. Your child does not use drugs or abuse alcohol

5. Your child is able to complete the study measures and interviews in English.

 Contact Information: If you are interested in finding out more about this research study, Please call Carolyn Chow at (310) 825-3458 or email beardenlab.ucla@gmail.com

 *Individuals under 18 must have their parents call.

 Principal Investigator: Carrie Bearden, Ph.D.Email: cbearden@mednet.ucla.edu

Department: UCLA Semel Institute, Depts of Psychiatry and Psychology, and Brain Research Institute.Please be assured all inquiries are kept confidential.


The Centre for Genomics and Policy at McGill University is looking for participants for a study on the experiences and preferences of patients with rare diseases and also of parents of children with rare diseases, in the Toronto and Ottawa Areas.

Please see flyers for

ADULTS with Rare disorders and

PARENTS of children with rare disorders

Posted May 6, 2014

Of interest to our members: Are you a parent or caregiver to a child with a neurogenetic condition such as 22q11.2 deletion syndrome/VCFS/Di George syndrome? Following on from an earlier study, the University of Newcastle would like to further understand how your child has impacted your life and how you have coped. You can do this study even if you participated in the Disclosure study in 2012/2013. To read more, or complete the survey click the link below: www.wix.com/c3094005/geneticdisorders

Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis, TN is conducting a research study to determine if neurons can be grown from the dental pulp of individuals with various neurogenetic syndromes including chromosomal duplications and deletions of human chromosome 22q. Participants will be required to submit a genetics report describing their deletion status with regards to 22q. Dr. Reiter will provide a tube of cell growth solution and a return package to you at no cost. Should you agree to participate you will only need to provide a fresh tooth specimen, either extracted or one that fell out on its own. Teeth must arrive at Dr. Reiter's laboratory no more than 48hrs after the time they came out of the mouth and in the special media provided.

For more information on how to participate, please contact Dr. Reiter directly via telephone: (901) 448-2635 or by e-mail:lreiter@uthsc.edu.
Lawrence T. Reiter, Ph.D.
Associate Professor, Department of Neurology

UC Davis MIND Instutute Research studies on 22q11

22q and You Center at Children’s Hospital of Philadelphia - Current studies:

A study examining Genetic Modifiers in the 22q11.2 deletion syndrome. This study is being conducted by Dr. Beverly Emanuel, Chief of the Department of Human Genetics at Children’s Hospital of Philadelphia, and Dr. Bernice Morrow, Professor of Genetics at Albert Einstein College of Medicine. DNA samples are being collected from affected individuals and their parents to investigate the causes of the 22q11.2 deletion and determine the genes that influence the clinical presentation of these patients.

The second is a study headed by Dr. Raquel Gur, a psychiatrist at the University of Pennsylvania, examining Brain and Behavior in individuals with 22q11.2. Participants give a blood sample for research, play a game on the computer, and speak with a Psychologist at the University of Pennsylvania about their feelings and emotions. Additionally, if the participant is eligible, he or she may undergo an MRI of the brain.


For further information, contact:

Alice G. Bailey

Clinic Coordinator, 22q and You Center

The Children's Hospital of Philadelphia

34th Street and Civic Center Boulevard

Philadelphia, PA 19104




22q11 Study

We have formed an international consortium of scientists to understand the cause of variable symptoms in association with the typical 22q11.2 deletion.  
Our goals are to identify genes that could explain why some VCFS/DGS/22q11DS patients have cardiovascular defects while others do not, as well as to see if any of those genes contribute to heart defects in the general population.  

We are actively recruiting children and adults with the syndrome that either have or do not have heart (and/or vascular) defects.  We are collecting saliva samples from children over the age of 5 yrs and their healthy parents.  Personal information will be kept confidential.  We do not provide results because its a population study.  If you are interested in participating please email Bernice Morrow (Albert Einstein College of Medicine, NYC) at bernice.morrow@einstein.yu.edu.