[DiGeorge syndrome, a review of 52 patients].
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.


CONCLUSIONS
Phenotypic diversity of the DiGeorge syndrome is important. Its knowledge allows to better determine the indications of the research of the microdeletion. 22q11.2.
Minier
F
F
Unité de foetopathologie, service d'anatomie pathologique, CHU Pellegrin, place Amélie-Raba-Léon, 33076 Bordeaux cedex, France. flominier@yahoo.fr
Carles
D
D
Pelluard
F
F
Alberti
E M
EM
Stern
L
L
Saura
R
R
D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005313:Fetal Death / Q000209:etiology / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012106:Research; D012189:Retrospective Studies