Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion.

The 22q11.2 deletion syndrome is typically caused by haploinsufficiency of a 3 Mb region that extends from LCR22-A until LCR22-D, while the recurrent recombination between any of the LCR22-D to H causes the 22q11.2 distal deletion syndrome.