… Finally, four patients with a duplication in the BP3–BP4–BP5 region were included in this …
the clinical significance of duplications in this region. Results: The 15q13.3 microdeletion in our …

… duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
… Results: The 15q13.3 microdeletion in our series was associated with a highly variable intra…

… and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe
outcome. J Med Genet. 2009;46:511–23. [Abstract: 19372089] …

… To determine the phenotypic spectrum of the 15q13.3 … We report the results of the single
largest review of 15q13.3 … the prevalence of various disorders associated with the 15q13.3 …

… associated with a broad spectrum of behavioral phenotypes in … Our results represent the
most comprehensive, systematic … in the region to various aspects of the clinical phenotype, and …

… syndromes A clinical spectrum varying from non-pathogenic to a severe outcome (J Med Genet
2009… chromosome 15q13 3 (Figure 5) may lead to a wide spectrum of diseases Deletions …

… 1.5 Mutational spectrum … interesting candidate at 15q13.3 for the severe visual abnormalities
observed … penetrance of the microdeletion, phenotypic outcomes cannot be reliably …

… small microduplications differing in duplication size, and show that they duplicate the entire
… result from preexisting heterogeneity of the common BP4–BP5 inversion. Clinical data and …

… 15q13.3 duplications are associated with various … Although both microdeletion and
microduplication of 15q13.… results of several different case-control studies delineating …

… dendrite outgrowth and result in abnormal … Further, it was challenging to draw meaningful
conclusions about some therapies used due to our small cohort and the number of different …