Article
PCR screening for 22q11.2 microdeletion: development of a new cost-effective diagnostic tool.
Clinica chimica acta; international journal of clinical chemistry - 15 Jul 2006
Gioli-Pereira L, Pereira A C, Mesquita S M, Lopes A A, Krieger J E
Abstract excerpt
BACKGROUND: Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome. Previous studies suggest that a substantial number of patients with congenital heart disease have a 22q11 deletion. The molecular diagnosis of Del22q11.2 is usually made by fluorescence in situ hybridization, an expensive and not widely available technique. We developed an efficient and cost-effective PCR SNP assay...
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