CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

We are all about connecting! 
Click here for an online membership form to JOIN US!  
Registered members receive our newsletter and can choose to be listed in our parent registry.

C22C is a parent driven group with more than 1000 members in 45+ countries. 

HOME | EVENTS | RESEARCH | NEWS | LINKS | PRIVACY POLICY | DISCLAIMER

CLICK HERE FOR E-MAIL SUPPORT LISTS  

MESSAGE BOARDS

FAMILY STORIES

FACEBOOK GROUP

MEMBERSHIP FORM

C22C 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 
and Registered Charity BN# 86009 3665 RR0001, and a Registered US Corporation with Non-Profit Status

 

New:

The JJ Clark Foundation
1050 E. River Road Suite 200
Tucson, AR 85718
(520) 495-0438

 

En Français -Montreal, Quebec

Fondation Amanda Raymond-Lamoureaux pour le syndrome de DiGeorge

22q11.2 DELETION SYNDROME
VELO-CARDIO-FACIAL SYNDROME, SHPRINTZEN SYNDROME, DiGEORGE SYNDROME, CATCH22,
CONOTRUNCAL FACE ANOMALY (Cayler-Cardio-Facial Syndrome, CHARGE Association, OPITZ G/BBB)

Meet Sabrina, one of our beautiful members!

SEE THIS PAGE FOR CURRENT RESEARCH STUDIES 

People with 22q11.2 deletion have a tiny piece of the chromosome missing at this breakpoint. The 22q11.2 deletion is associated with Velo-Cardio-Facial Syndrome (VCFS, Shprintzen Syndrome), DiGeorge Sequence, CATCH 22, Conotruncal Anomaly Face syndrome (CAFS) (Japan) and sometimes seen in Opitz G/BBB syndrome, CHARGE Association and Cayler-Cardio-Facial Syndrome. The reason for the difference in names, is partly due to different preferences in terminology by different doctors. It is the most common microdeletion syndrome.The explanation of this is best said in Dr. Shprintzen's article "The Name Game" and can be found on the VCFS Institute's site. It is estimated to occur in 1 out of every 2000-4000 births. Read CHOP'S HISTORY OF 22q11-.

What causes 22q11.2 deletion?  

This article helps explain why it occurs : Chromosome 22-specific low copy repeats and the 22q11.2 deletion ...

This is one of the best explanations of the disorder: Geneclinics  

22q11.2- presents several features, some of these may include:

Short stature Microcephaly Learning challenges
Eye problems Hearing problems Emotional and behavioural problems
Low muscle tone Cleft palate Gastro-intestinal problems
Scoliosis Immune system problems Heart defects

See the VCFS Institutes extensive list of clinical findings

E-Mail Support lists - these are not inclusive - there are so many and I am sure many more not listed here.
 (these groups are not affiliated with C22C but listed here for your convenience):

RELATED WEBSITES:

CENTERS FOR SUPPORT/RESEARCH

Children's Hospital of Philadelphia
22q & You Newsletter
Clinical Genetics
34 th and Civic Center Blvd.
Philadelphia, PA 19104
Tel: (215) 590-2920

The Velo-Cardio-Facial Syndrome Educational Foundation, Inc
Karen J. Golding-Kushner, Ph.D., 
Executive Director
P.O. Box 874
Milltown, New Jersey 08850
tel: 1-866-VCFSEF5 (toll free) or 1-732-238-8803
general: info@vcfsef.org
for more specific inquiries: kgkushner@vcfsef.org

The 22q11 Deletion Syndrome Clinic, The Hospital for Sick Children
Division of Clinical and Metabolic Genetics
525 University Avenue, Suite 940, 9th Floor 
Toronto, Ontario   M5G 1X8
Phone: (416) 813-6390   Fax: (416) 813-5345

The International 22q11.2 Deletion Syndrome Foundation, Inc.
P.O. Box 15, Haddon Heights, NJ  08035
www.22q.org, info@22q.org, tel: (877) 739-1849

AUSTRALIA: VCFS Foundation (Qld) Inc.

M.I.N.D. website at http://cabil.mindinstitute.org.  
Contact:    Marisol Q. Mendoza, M.A.
Clinical Research Coordinator
Cognitive Analysis & Brain Imaging Laboratory (CABIL)
M.I.N.D. Institute
University of California, Davis
Phone: (916) 703-0408
Fax: (916) 703-0333
mqmendoza@ucdavis.edu

Center for the Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome
Dr. Robert J. Shprintzen, Director
Jacobsen Hall, SUNY Upstate Medical University
175 Elizabeth Blackwell Street, Syracuse, NY 13210
tel: (315) 464-6590  Fax: (315) 464-6593

Albert Einstein College of Medicine
Dept of Molecular Genetics
1300 Morris Park Avenue
Bronx, NY 10461
tel: 718-430-4274

The Rockefeller University
1230 York Avenue Box 45
New York NY 10131-3100
tel:1-888-920-9100 toll free

Southeastern Regional Center of Excellence for 22q
Emory University School of Medicine 2165 N. Decatur Road, Atlanta Georgia
 404-778-8500

HEAD OFFICE - for ALL inquiries: Chromosome 22 Central, c/o Stephanie St-Pierre, 237 Kent Avenue, Timmins, Ontario, Canada P4N 3C2 tel/fax: (705) 268-3099, EMAIL:  steph.stpierre@gmail.com

  US Head Office - for US donations: Chromosome 22 Central, c/o Murney Rinholm, 7108 Partinwood Drive, Fuquay-Varina, North Carolina, 27526  USA, tel (919) 567-8167, EMAIL: bgr@nc.rr.com

  Latin America / Spanish inquiries - Laura Munoz, Robinson Crusoe 1209, Las Condes - Santiago, Chile tel: 02-3251262 EMAIL: lauramuno@hotmail.com