Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22 → pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22 → pter)]. This is the first reported case of a de novo deletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22→pter)]. This is the first reported case of a de novo deletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome

Modeling of water wicking along fiber/matrix interface voids in unidirectional carbon/vinyl ester composites

Void formation at the fiber/matrix (F/M) interface is known to be a primary structural defect in a composite material. It is a major factor that contributes to the water uptake in composite materials for underwater applications. We develop a mathematical model to describe the kinetics of water uptake in unidirectional fiber reinforced resin composites containing voids. By using a one-dimensional two-phase fluid flow model with parameters derived from Microcomputed X-ray tomography (µCT), we predict the water wicking process in carbon/vinylester (CF/VE) panels containing capillary voids at the F/M interphase. The capillary driven flow is impeded by viscous forces and the compressed air bubble, trapped between the two flow fronts. In particular, our calculation indicates that the effective contact angle at the F/M interface in CF/VE composite is 29.7 ± 0.1° for the equivalent capillary radius of 1.2 µm. The results are validated by comparing the simulated water absorption to the experimental data for CF/VE composite specimens of three different sizes immersed in sea water