Is a 22q11.2 deletion a rare genetic disorder?
It is the most frequently occurring chromosome deletion and the second most common cause of congenital heart defects. It is currently estimated that as many as 1 in 1,800 of the population may be affected by the 22q11.2 deletion. However it not particularly well known as often the symptoms are mild or sometimes there are no obvious symptoms at all and the FISH test has only been commonly available in the last few years. The 22q11.2 micro-deletion spectrum of disorders includes: DiGeorge syndrome, VCFS (velo-cardio-facial syndrome/ Shprintzen syndrome), Opitz G/BBB syndrome, conotruncal anomaly face syndrome (CTAF) and Velo-Pharyngeal Insufficiency (VPI). The diagnostic name which is given to a patient is generally determined by the specialist to whom the patient presents. For example, patients diagnosed with CTAF often present to cardiology because of their heart defect. The same is true for many patients with DiGeorge syndrome (who often have problems with calcium and their immunity i
