DiGeorge syndrome (medical condition)

A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. There are a number of syndromes associated with this deletion including Shprintzen and conotruncal anomaly face syndrome. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans. See also DiGeorge syndrome