Article
High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.
BMC medical genetics - 17 Sept 2012
Siggberg Linda, Ala-Mello Sirpa, Sirpa Ala-Mello, Linnankivi Tarja, Tarja Linnankivi, Avela Kristina, Kristiina Avela, Scheinin Ilari, Ilari Scheinin, Kristiansson Kati, Kati Kristiansson, Lahermo Päivi, Päivi Lahermo, Hietala Marja, Marja Hietala, Metsähonkala Lisa, Liisa Metsähonkala, Kuusinen Esa, Esa Kuusinen, Laaksonen Maarit, Maarit Laaksonen, Saarela Janna, Janna Saarela, Khuutila Sakari, Sakari Knuutila
Abstract excerpt
BACKGROUND: Diagnostic analysis of patients with developmental disorders has improved over recent years largely due to the use of microarray technology. Array methods that facilitate copy number analysis have enabled the diagnosis of up to 20% more patients with previously normal karyotyping results. A substantial number of patients remain undiagnosed, however. METHODS AND RESULTS: Using the Genome-Wide Human SNP...
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