Targeted resequencing of the remaining allele in the 22q11 region for 127 patients

The 22q11.2 deletion syndrome is the most common microdeletion disorder, with wide phenotypic variability. To investigate variation within the non-deleted allele we performed targeted Illumina HiSeq 2000 resequencing of the 22q11.2 region for 127 patients, identifying multiple deletion sizes, and approximately 12 thousand hemizygous variant positions.