22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome
(Velocardiofacial Syndrome and DiGeorge Syndrome)
22q11.2 Deletion Syndrome occurs in approximately 1-2000 to 4000 births. It is caused by a small deleted area on one chromosome 22, at the q11.2 area.
The Genereview entry on 22q11 Deletion Syndrome gives one of the best overviews of the disorder. Another great overview of the condition is 22q11.2 Primer.
For a comprehensive overview, you can purchase a copy of The Chromosome 22q11.2 Deletion Syndrome: A multidisciplinary approach to diagnosis and treatment – edited by Donna M. McDonald-McGinn, MS, LCGC on Amazon.
22q11 Deletion has historically been described by many different names including Velocardiofacial syndrome, DiGeorge Syndrome, Conotruncal Anomaly Face syndrome, Opitz G/BBB syndrome, and Cayler Cardiofacial Syndrome. The different names arose historically as they were originally described separately by different specialists. Today, it is more commonly referred to as the 22q11.2 deletion syndrome.
22q11 Deletion can cause many effects on a person – about 180 different findings have been identified. That doesn’t mean that everyone will have all of these features as everyone will be impacted differently. Some common features can include heart defects, immune system problems, a distinctive facial appearance, learning challenges, cleft palate, hearing loss, kidney problems, hypocalcemia, and sometimes, psychiatric issues.
C22C has more members with this deletion syndrome than any other condition.
Many excellent websites offer information on this condition, and the following are only a few. If you know of a site that should be listed here, please email us.
Helpful articles on clinical guidelines for individuals with 22q11:
- Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome (2023)
- Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome (2023)
- Prenatal screening and diagnostic considerations for 22q11.2 microdeletions (2023)
Additional Support, Information and Awareness:
Canada and USA
- The International 22q11.2 Deletion Syndrome Foundation
- The 22q Family Foundation
- 22q Canada (Facebook group)
- 22q Families British Columbia
- 22Q Texas, Inc.
- Angels with missing pieces (Kansas City area)
- 22qties Unite
- Inqluded
- 22q11.2 Society (International Group for Professionals)
- There are 22q groups for most US states if you search Facebook
International
- 22q Europe
- 22q11 Ireland
- 22q Northern Ireland
- 22q11 Foundation – Australia and New Zealand
- MaxAppeal – UK
- AIdel22 – Italy
- Association 22q Spain
- 22q Andalucia Spain
- Generation 22 – France
- 22q Belgium
- 22q Poland
- 22q Denmark
- 22q Columbia
- Stichting Support 22Q11 – The Netherlands
- 22q Argentina (Facebook)
- 22q Portugal (Facebook)
- 22q Africa (Facebook)
- 22q Heart Club – Japan
- 22q Serbia
- 22q Sweden
SPECIALTY CLINICS
Canada
- Dalglish Family Hearts & Minds Clinic for 22q11.2 Deletion Syndrome in Toronto, Ontario (Adult Focus)
- 22q Deletion Syndrome Clinic – Hospital for Sick Children – Toronto, Ontario
United States
- The 22q and You Centre – Children’s Hospital of Philadelphia
- 22q11 Deletion Clinic MassGeneral – Boston, Massachusetts
- 22q Clinic at Phoenix Children’s Hospital
- 22q Clinic – Children’s Hospital of Chicago
- 22q Center – Cincinnati Children’s Hospital
- 22q Center at Nationwide Children’s Hospital – Columbus, Ohio
- 22q Deletion Syndrome Specialty Clinic, Children’s Hospital Colorado
- 22q11 Deletion Clinic at Duke Children’s Hospital -Durham, NC
- 22q Clinic, Child Development and Resource Centre, Oregon Health and Science University, Portland, Oregon
- 22q Clinic Seattle Children’s Hospital, Washington
- UCLA 22q11 Clinic Los Angeles – UCLA Mattel Children’s Hospital
- 22q Clinic at Nicklaus Children’s Hospital, Miami Florida
See the International 22q11.2 Foundation website for International Clinics
____
Join C22C’s Facebook Group to connect with other families.
NORD entry on 22q11.2 deletion syndrome
Search PUBMED for journal articles on 22q11.2 deletion syndrome