F Minier1, D Carles, F Pelluard, E M Alberti, L Stern, R Saura. 1. Unité de foetopathologie, service d'anatomie pathologique, CHU Pellegrin, place Amélie-Raba-Léon, 33076 Bordeaux cedex, France. flominier@yahoo.fr
Abstract
UNLABELLED: 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.
UNLABELLED: 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.
Authors: Carrie E Bearden; Theo G M van Erp; Rebecca A Dutton; Helen Tran; Lara Zimmermann; Daqiang Sun; Jennifer A Geaga; Tony J Simon; David C Glahn; Tyrone D Cannon; Beverly S Emanuel; Arthur W Toga; Paul M Thompson Journal: Cereb Cortex Date: 2006-10-20 Impact factor: 5.357