Article
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.
Human mutation - 1 Dec 2011
Bruno Damien L, Stark Zornitza, Amor David J, Burgess Trent, Butler Kathy, Corrie Sylvea, Francis David, Ganesamoorthy Devika, Hills Louise, James Paul A, O'Rielly Darren, Oertel Ralph, Savarirayan Ravi, Prabhakara Krishnamurthy, Salce Nicholas, Slater Howard R
Abstract excerpt
Microarray analysis has provided significant advances in the diagnosis of conditions resulting from submicroscopic chromosome abnormalities. It has been recommended that array testing should be a "first tier" test in the evaluation of individuals with intellectual disability, developmental delay, congenital anomalies, and autism. The availability of arrays with increasingly high probe coverage and resolution has...
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