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Journal articles
Fluorescent In Situ Hybridization, Psychological, and Psychiatric Studies in Children With Supravalvular Aortic Stenosis
Abstract : 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.
https://hal-riip.archives-ouvertes.fr/pasteur-01375324
Contributor : Institut Pasteur Tunis <>
Submitted on : Thursday, January 5, 2017 - 9:45:02 AM
Last modification on : Thursday, March 7, 2019 - 11:50:27 AM
Contributor : Institut Pasteur Tunis <>
Submitted on : Thursday, January 5, 2017 - 9:45:02 AM
Last modification on : Thursday, March 7, 2019 - 11:50:27 AM
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