Microdeletion syndrome 22q11.2

The microdeletion syndrome 22q11 is caused by the loss of a tiny piece of genetic material on the short arm of chromosome 22, which includes up to 45 different genes. It embraces syndromes such as the DiGeorge syndrome and the Shprintzen syndrome (velocardiofacial syndrome).The occurrence is 1:4,000 – 1:6,000. The clinical condition can manifest itself in a number of different ways.Of the children affected, 85 per cent have a congenital heart defect, which almost always affects the outflow tract of the heart, that is the major blood vessels leaving the heart. For example, the aortic arch may be interrupted or a truncus arteriosis communis is present. There is often a ventricular septal defect or a tetralogy of Fallot.Apart from the heart defects, typical symptoms for a microdeletion 22q11 syndrome are differences in facial features, hypofunction of the thyroid gland with resultant disorders of calcium metabolism, palatal abnormalities, absence of the thymus, the inability to ward off infections, delayed speech development, feeding problems, delayed development, reduced muscle tone and reduced intellectual capacity.Life expectancy is normal provided the immune disorder and heart defect, which is sometimes severe, can be controlled.

Author(s): Dr Stefanie Weismann-Günzler
Reviewed by: Dr Heide Seidel
Last updated: 2014-03-13