Endocrine Abstracts

Microdeletions or microduplications in the 22q11.2 region cause a variety of disorders, including DiGeorge syndrome (DGS; MIM 188400), velocardiofacial syndrome (VCFS; MIM 192430) and cat-eye syndrome (CES; MIM 115470). DGS and VCFS clinically overlap and are both caused by three million-base pair (Mb) deletions on the chromosome region 22q11.2, flanked by low copy number repeats (LCRs) labeled ‘A-D’. The most common deletion, present in 85% of individuals, extends f...