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CHROMOSOME 22 CENTRAL We
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NEWSLETTERS DOWNLOAD A .PDF COPY OF OUR BROCHURE - SPREAD THE WORD! Chromosome 22 Central Inc.
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22q11 DELETION
SYNDROME
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Meet Sabrina, one of our beautiful members! |
SEE THIS PAGE FOR CURRENT RESEARCH STUDIES
People with 22q11 deletion have a tiny piece of the chromosome missing at this breakpoint. 22q11 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 deletion?
This is one of the best
explanations of the disorder: Geneclinics
22q11- 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:
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OMIM VCFS info sheet
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NORD DiGeorge info sheet
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NORD VCFS info sheet
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
Use Paypal to
pay MEMBERSHIP DUES, or for Canadian or International Donations ONLY.USA members for DONATIONS Please forward a cheque or money order to our US HEAD OFFICE so that you can obtain a tax receipt.
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 - donations only: 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
