Article
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.
Human mutation - 1 Jul 2009
McMullan Dominic J, Bonin Michael, Hehir-Kwa Jayne Y, de Vries Bert B A, Dufke Andreas, Rattenberry Eleanor, Steehouwer Marloes, Moruz Luminita, Pfundt Rolph, de Leeuw Nicole, Riess Angelika, Altug-Teber Ozge, Enders Herbert, Singer Sylke, Grasshoff Ute, Walter Michael, Walker Judith M, Lamb Catherine V, Davison E Val, Brueton Louise, Riess Olaf, Veltman Joris A
Abstract excerpt
Genomic microarrays have been implemented in the diagnosis of patients with unexplained mental retardation. This method, although revolutionizing cytogenetics, is still limited to the detection of rare de novo copy number variants (CNVs). Genome-wide single nucleotide polymorphism (SNP) microarra...
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