Abstract: Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (IAA) and allied disorders, such as Leri-Weill dyschondrosteosis (LWD). To allow fast and reliable molecular testing, D’haene et al. (JCEM, 2010) introduced a quantitative PCR (qPCR) based copy number profiling test, consisting of 11 amplicons targeting clinically relevant regions.Summary: Copy number changes under the form of deletions and duplications are known to be involved in numerous human genetic disorders. Moreover, each individual’s genome embodies several copy number polymorphisms of various sizes which are thought to contribute to normal phenotypic variation and susceptibility to multifunctional disease.
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