Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases

Abstract

This report describes three cases of 22q11.2 deletion syndrome (22q11.2DS) diagnosed by array comparative genomic hybridization with final adult height and bone phenotype. The cases involved a 57-year-old woman with hypocalcemic seizure, an 18-year-old man with short stature, and a 24-year-old woman incidentally diagnosed as 22q11.2DS. The first two patients revealed short stature and low bone mineral density, and their deletion sites included the TBX1. The third patient had normal stature and normal bone mineral density, and the deletion site did not include the TBX1. The deletion of specific genes including the TBX1 could be an important factor of skeletal development including height and bone mineral density of 22q11.2DS.