Article Text
Original article
Towards earlier diagnosis of 22q11 deletions
Abstract
Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise guidelines to facilitate early diagnosis.
- 22q11 microdeletions
- CATCH 22
- velocardiofacial
- DiGeorge syndrome
- tetralogy of Fallot