Presentation
Characteristic features were present including heart defects, thymic apalsia or hypoplasia, hypocalcemia, and dysmorphic facies. [ncbi.nlm.nih.gov]
Gastrointestinal
- Failure to Thrive
He was hospitalized because of apnea and failure to thrive twice. Double signal was seen upon the use of D22S75 probe. [ncbi.nlm.nih.gov]
Etiology
Aberration: Interstitial deletion Chromosomal Aneuploidy: 22q- Index Terms: Di George syndrome Negative band Driscoll D A, Budarf M L, Emanuel B S: A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. [ncbi.nlm.nih.gov]