The deletion of chromosome 22q11.2 is involved in the majority of DiGeorge or 
velo-cardiofacial syndrome. The phenotypic variability was noted in the "CATCH 
22" acronym. This acronym doesn't recapitulate the full spectrum of the 
symptoms. The diagnosis of this syndrome can be done with the prenatal 
diagnosis, with fetal pathology or with a child alive.
METHODS: Review of 52 cases with the microdeletion 22q11. Six cases were 
diagnosed during the prenatal period, 12 cases at fetal pathology examination, 
and 34 cases during infancy.
RESULTS: Cardiac malformations were the major indications (75%) to search for 
the microdeletion. The facial dysmorphy was difficult to diagnose during the 
antenatal period or in dead foetus, thereby it was not often recognized. The 
renal anomalies usually present in 35% of cases, were diagnosed in only 6 to 16% 
of the cases in our study.
CONCLUSION: Phenotypic diversity of the DiGeorge syndrome is important. Its 
knowledge allows to better determine the indications of the research of the 
microdeletion. 22q11.2.