Article
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Journal of medical genetics - 1 Feb 2009
Bruno D L, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner R J M, Hunter M, James P A, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer I E, Sheffield L, Tan T, White S M, Yeung A, Bowman Z, Ngo C, Choy K W, Cacheux V, Wong L, Amor D J, Slater H R
Abstract excerpt
BACKGROUND: Microarray genome analysis is realising its promise for improving detection of genetic abnormalities in individuals with mental retardation and congenital abnormality. Copy number variations (CNVs) are now readily detectable using a variety of platforms and a major challenge is the distinction of pathogenic from ubiquitous, benign polymorphic CNVs. The aim of this study was to investigate replacement...
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