Article
Etiological yield of SNP microarrays in idiopathic intellectual disability.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2014
Utine G Eda, Haliloğlu Göknur, Volkan-Salancı Bilge, Çetinkaya Arda, Kiper Pelin Ö, Alanay Yasemin, Aktaş Dilek, Anlar Banu, Topçu Meral, Boduroğlu Koray, Alikaşifoğlu Mehmet
Abstract excerpt
Intellectual disability (ID) has a prevalence of 3% and is classified according to its severity. An underlying etiology cannot be determined in 75-80% in mild ID, and in 20-50% of severe ID. After it has been shown that copy number variations involving short DNA segments may cause ID, genome-wide SNP microarrays are being used as a tool for detecting submicroscopic copy number changes and uniparental disomy. This...
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