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 previously reported. Health professionals, who collected clinical data, from twelve centers were trained in those criteria, which were summed through an online application (CranFlow).

Results

Clinical and laboratorial data of 347 individuals registered from 2008 to 2017 in the Brazilian Database on Craniofacial Anomalies/22q11.2 Deletion Syndrome, were reviewed. They were divided in two groups: (I) 168 individuals investigated before the definition of the criteria and (II) 179 individuals inv

SUBMITTER: Sgardioli IC 

PROVIDER: S-EPMC6547599 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature