There are very many conditions arising from Chromosome 22 abnormalities and even within the same condition needs differ widely.
Incidence of Trisomy 22 is relatively high and one of the most common causes of miscarriage in the UK but sadly most babies die before or shortly after birth. Other chromosome 22 disorders are considered rare, some near unique.
Max Appeal are a UK charity providing support for families and professionals affected by Velocardiofacial Syndrome, DiGeorge Syndrome and some other chromosome 22 disorders.
Most online resources for other disorders are largely clinical, but best starting point for research is C22 Central which is a busy portal and reference site for all chromosome 22 disorders.
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- C22 Central
Chromosome 22 Central is a registered charity based in Canada but with an international perspective. Their organisation promotes networking, information sharing around all C22 Disorders. Their website provides the best starting point for general research into C22 disorders.
- Max Appeal
UK based support organisation for DiGeorge, VCFS and related Syndromes. Their website provides very useful factsheets and links.
- Phelan-McDermid Syndrome
Phelan-McDermid Syndrome (22q13 Deletion Syndrome) is a rare condition, this support group for families looks worldwide and was initiated by Dr Phelan.
- Max Appeal Educational Factsheet
Factsheet from Max Appeal providing an excellent overview of educational issues for children with 22q11 deletions
- VCFS Educational Foundation
An NFP organisation providing support and information to families and professionals of children affected by Velocardiofacial Syndrome
- CHOP 22q and You
Children's Hospital of Philadelphia website which has a section with much useful information on 22q disorders.
- Language Skills in Children with VCFS
Research Paper from Standford Uni examing the language skills of children with Velocardiofacial Syndrome
- Cat Eye Syndrome
Link to NIH site in the US. Cat Eye (Schmid-Fraccaro) Syndrome is a rare C22 disorder. This page lists a number of medical papers and references.
- Emanuel Syndrome
Link to the US NIH website. Emanuel Syndrome aka Supernumerary DER(22) Syndrome is a rare C22 disorder. These page provides a number of largely medical references.
- Trisomy 22
Page of reference articles on Trisomy 22 from the C22C Website
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