Article
Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.
Physiological genomics - 1 Sept 2010
Tomita-Mitchell Aoy, Mahnke Donna K, Larson Joshua M, Ghanta Sujana, Feng Ying, Simpson Pippa M, Broeckel Ulrich, Duffy Kelly, Tweddell James S, Grossman William J, Routes John M, Mitchell Michael E
Abstract excerpt
22q11.2 Deletion syndrome (22q11.2 DS) [DiGeorge syndrome type 1 (DGS1)] occurs in ∼1:3,000 live births; 75% of children with DGS1 have severe congenital heart disease requiring early intervention. The gold standard for detection of DGS1 is fluorescence in situ hybridization (FISH) with a probe at the TUPLE1 gene. However, FISH is costly and is typically ordered in conjunction with a karyotype analysis that takes...
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