Article
A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology.
Cytogenetic and genome research - 1 Jan 2009
Talseth-Palmer B A, Bowden N A, Meldrum C, Nicholl J, Thompson E, Friend K, Liebelt J, Bratkovic D, Haan E, Yu S, Scott R J
Abstract excerpt
Children with intellectual disability, dysmorphic features, malformations and/or growth abnormalities frequently display normal karyotypes. Recent studies have shown that genome-wide single nucleotide polymorphism (SNP) arrays can be effective in detecting abnormalities involving copy number variation (CNV), deletions, duplications and loss of heterozygosity (LOH) that routine cytogenetic tests fail to identify....
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