Chromosomal Duplication Syndromes: A Case Series.

Chromosomal deletion and duplication syndromes can lead to intellectual disability, autism, microcephaly, and poor growth. Usually manifestations of duplication syndromes are milder than that of the deletion syndromes. With the availability of tests for analysis of copy number variants, it is possible to identify the deletion and duplication syndromes with greater ease. We report 32 cases of chromosomal duplication syndromes, identified in children presenting with developmental delay, intellectual disability, or microcephaly and/or additional features, at a tertiary care center on karyotyping or microarray analysis. Seven were isolated duplications, and one child had an additional smaller pathogenic deletion. Thus, duplication syndromes can have milder presentations with spectrum of dysmorphism, behavioral problems, and intellectual disability, but it is possible to diagnose easily with latest emerging high-throughput technologies.

Successful Synthesis of Gold Nanoparticles through Ultrasonic Spray Pyrolysis from a Gold(III) Nitrate Precursor and Their Interaction with a High Electron Beam.

Herein, we report for the first time the successful preparation of a gold(III) nitrate [Au(NO3)3] water-based precursor for use in a bottom-up ultrasonic spray pyrolysis (USP) process. Due to its limited solubility in water, the precursor was prepared under reflux conditions with nitric acid (HNO3) as the solvent and ammonium hydroxide (NH4OH) as a neutralizer. This precursor enabled the USP synthesis of gold nanoparticles (AuNPs) and the in situ formation of low concentrations of NO2- and NO3- ions, which were caught directly in deionized water in a collection system. These ions were proven to act as stabilizers for the AuNPs. Investigations showed that the AuNPs were monodispersed and spherically shaped with a size distribution over three groups: the first contained 5.3 % AuNPs with diameters (2 r) <15 nm, the second contained 82.5 % AuNPs with 2 r between 15 and 200 nm, and the third contained 12.2 % AuNPs with 2 r>200 nm. UV/Vis spectroscopy revealed the maximum absorbance band of the AuNPs at λ=528 nm. Additionally, scanning transmission electron microscopy (STEM) observations of the smallest AuNPs (2 r<5 nm) revealed atomically resolved coalescence phenomena induced by interaction with the electron beam. Four stages of the particle-growth process were distinguished: 1) movement and rotation of the AuNPs; 2) necking mechanism; 3) orientated attachment at matching facets; 4) reshaping of the AuNPs by surface diffusion. This provided important insight into the formation/synthesis process of the AuNPs.