A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.

Whole genome profiling such as array comparative genomic hybridization has identified novel genomic imbalances. Many of these genomic imbalances have since been shown to associate with developmental delay, intellectual disability and congenital malformation. Here we identified five unrelated individuals who have a recurrent 1.71 Mb deletion/duplication at 2q13 (Human Genome Build 19: 111,392,197-113,102,594). Four of these individuals have developmental issues, four have cranial dysmorphism. Literature review revealed 14 more cases that had similar genomic imbalances at 2q13. Many of them had developmental delay and dysmorphism. Taken together, 93% and 63% of individuals with this genomic imbalance displayed impaired developmental skills and/or abnormal facial features respectively. This copy number variant (CNV) has not been reported in normal control databases. We, therefore, propose that CNV in this region is a risk factor for developmental delay and dysmorphism.

An alternative route towards the fabrication of 2D blue phosphorene.

Blue phosphorene (BlueP) is a novel two-dimensional material that shares properties with black phosphorene and is potentially even more interesting for opto-electronic applications because of its layer dependent wide band gap of ≈ 2 to 3 eV and superior charge carrier mobility. It was first fabricated on Au(111), where, however, a network consisting of BlueP subunits and Au-linker atoms is formed. The physical properties of such an arrangement strongly differ from a freestanding BlueP monolayer. Here, we report on the growth of epitaxial BlueP on the Au(100) surface, which is an interesting alternative when aiming at quasi-freestanding BlueP domains. We find two different phosphorus phases by means of scanning tunneling microscopy and distortion-corrected low-energy electron diffraction. In the low coverage regime, we observe a commensurate (2 × 2) phase, whereas for higher coverage, a nearly hexagonal structure is formed. For the latter, the lattice parameters measured via atomically resolved scanning tunneling hydrogen microscopy closely resemble those of freestanding BlueP, and the typical height modulation of the phosphorus atoms is verified in our layers by means of x-ray photoelectron diffraction. We further analyze the chemical and electronic properties of these films by means of x-ray and (angle resolved) ultraviolet photoelectron spectroscopy.