Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health

Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health

Abstract Background The clinical heterogeneity of the 22q11.2 Deletion Syndrome (22q11.2DS – OMIM, #188400 and #192430) is a universal challenge leading to diagnostic delay. The aim of this study was to evaluate a low cost strategy for the diagnosis of this condition based upon clinical criteria pre...

Full description

Bibliographic Details
Main Authors: Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Paulo Fanti, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
22q11.2 deletion syndrome
Clinical criteria
Diagnosis
Public health
Fluorescence in situ hybridization
Multiplex ligation probe-dependent amplification
Online Access:http://link.springer.com/article/10.1186/s13023-019-1098-1

Internet

http://link.springer.com/article/10.1186/s13023-019-1098-1

Similar Items