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Genomic disorders result from heterozygous copy number variants (CNVs). Homozygous deletions spanning numerous genes are rare, despite the potential contribution of consanguinity to such instances. CNVs in the 22q11.2 region are mediated by nonallelic homologous recombination between pairs of low copy repeats (LCRs), from amongst eight LCRs designated A‐H. Heterozygous distal type II deletions (LCR‐E to LCR‐F) have incomplete penetrance and variable expressivity, and can lead to neurodevelopmental issues, minor craniofacial anomalies, and congenital abnormalities. We report siblings with global developmental delay, hypotonia, minor craniofacial anomalies, ocular abnormalities, and minor skeletal issues, in whom chromosomal microarray identified a homozygous distal type II deletion. The deletion was brought to homozygosity as a result of a consanguineous marriage between two heterozygous carriers of the deletion. The phenotype of the children was strikingly more severe and complex than that of the parents. This report suggests that the distal type II deletion harbors a dosage‐sensitive gene or regulatory element, which leads to a more severe phenotype when deleted on both chromosomes. [ABSTRACT FROM AUTHOR]

This study presents a method for on-site assessment of prestress losses in prestressed concrete structures. The study is motivated by the increased use of prestressed concrete, the importance of prestressing force levels as a parameter, and the lack of formalized methods for its on-site assessment. The proposed method uses strain measurements from long-gauge fiber optic sensors to study strain changes at the centroid of stiffness (i.e. centroid of composite section) of the cross-sections. Its advantages include (1) robustness to operational load on the structure caused by seasonal and daily temperature variations, in addition to loading; (2) rigorous quantification of uncertainties associated with measurements and parameters; and (3) applicability to a wide range of beam-like structures. The application of the method is illustrated through application to measurements collected over a 7-year period from strain sensors embedded in Streicker Bridge, a post-tensioned concrete pedestrian bridge on the Princeton University campus. Application of the method indicates that prestress losses measured by sensors are of comparable magnitude to design estimates, which implies that estimates are not necessarily overly conservative. [ABSTRACT FROM AUTHOR]