Fluorescent In Situ Hybridization, Psychological, and Psychiatric Studies in Children With Supravalvular Aortic Stenosis
Résumé
Objective. To estimate the frequency and investigate the clinical features of 7q11.23 microdeletion in unselected patients with supravalvular aortic stenosis, a total of 7 patients originating from the south of Tunisia were evaluated prospectively by molecular cytogenetic studies. Methods. The clinical analysis was performed according to a specific clinical protocol for the diagnosis of congenital cardiovascular malformations. Cytogenetic analysis with RHG banding was used to detect chromosome rearrangements. Cytogenetic molecular analysis was undertaken using one probe: LSI Williams-Beuren Syndrome (WBS) region probe D7S486/D7S522. For the 3 patients carrying a 7q11.2 microdeletion, psychological and psychiatric tests were performed. Results.-All patients had normal karyotype 46,XX or 46,XY. Three patients were found to have a 7q11.2 deletion, whereas all of them had clinically typical WBS features. Conclusions: The clinical observation noted in this study emphasizes the need for more detailed phenotypic studies in patients and their families, We have seen a wide range of phenotypes associated with a deletion at the elastin locus in this series.