Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health.
Ilária Cristina SgardioliFabíola Paoli MonteiroPaulo FantiTársis Paiva VieiraVera Lúcia Gil-da-Silva-LopesPublished in: Orphanet journal of rare diseases (2019)
Therefore, a locus-specific approach could be used to individuals with positive criteria as a cost-effective alternative for 22q11.2DS diagnosis. The authors discuss advantages and suggest ways of implementing this approach to investigate 22q11.2DS in a public health system.