22q11.2 deletion syndrome

22q11.2.jpg


Where on Chromosome is Problem?

On the 22nd chromosome- a piece of it is deleted at the q11.2 location, near the middle of the chromosome (a microdeletion).

What Is the Problem?

22q11.2 deletion syndrome can have a wide array of symptoms and effects, and consequently has had many different names (DiGeorge syndrome, velo-cardio-facial syndrome, etc.). It can affect almost all body systems, and can result in: heart defects, cleft palates, gastrointestinal difficulties, deficient immune systems, delayed growth, kidney problems, hearing loss, low endocrine issues, hypocalcemia, developmental delays, and behavioral, emotional, and psychiatric differences. 22q11.2 isn't caused by inheritance, and occurs in about 1 in every 4000 births. While any of the above symptoms can present themselves in varying degrees, the most common are congenital heart defects and cleft palates.

What is the Prognosis?

Because the results of 22q11.2 are so varied, the quality of life and expected lifespan of those with the syndrome can vary greatly, although the syndrome itself is not fatal. Results like heart defects can reduce life expectancy significantly, while manifestations like cleft palates would most likely not have a huge impact on life span. Behavioral or learning disabilities can also result and impact life. Overall, the prognosis really depends on the individual.


Cite Your Sources

http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome
http://www.22q.org/
http://www.nationwidechildrens.org/22q11-deletion-syndrome

By Claire Jurgensen, Alana Heavican, and Lauren Douma