Endocrine Abstracts

Introduction: The 22q11.2 deletion syndrome (22q11.2DS) caused by a microdeletion of the 22q11.2 region of chromosome 22 is the most common deletion in humans causing a variety of disorders, including DiGeorge syndrome (OMIM #188400), velocardiofacial syndrome (OMIM #192430) and distal chromosome 22q11.2 deletion syndrome (OMIM #611867). Most individuals diagnosed with this condition are identified in early childhood and the diagnosis in adults is uncommon. It is characterized...