TY - JOUR AU - Sgardioli, Ilária Cristina AU - Paoli Monteiro, Fabíola AU - Fanti, Paulo AU - Paiva Vieira, Társis AU - Gil-da-Silva-Lopes, Vera Lúcia PY - 2019 DA - 2019/06/03 TI - Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health JO - Orphanet Journal of Rare Diseases SP - 123 VL - 14 IS - 1 AB - 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). SN - 1750-1172 UR - https://doi.org/10.1186/s13023-019-1098-1 DO - 10.1186/s13023-019-1098-1 ID - Sgardioli2019 ER -