Development of a TaqMan-based dosage analysis PCR assay for the molecular diagnosis of 22q11.2 deletion syndrome.

A 1.5 to 3 Mb microdeletion of chromosome 22q11.2 with loss of multiple genes including histone cell cycle regulator (HIRA) causes 22q11.

Nucleophilic and Electrophilic Molybdenum Terminal Oxo Complexes by Coordination-Induced Bond Weakening of Hydroxo O-H Bonds.

The extent of coordination-induced bond weakening in aquo and hydroxo ligands bonded to a molybdenum(III) center complexed by a dianionic, pentadentate ligand system was probed by reacting the known complex (BPzPy)Mo(III)-NTf, , with degassed water or dry lithium hydroxide. The aquo adduct was not observed, but two LiNTf-stabilized hydroxo complexes were fully characterized. Computational and experimental work showed that the O-H bond in these complexes was significantly weakened (to ≈57 kcal mol), such that these compounds could be used to form the diamagnetic, neutral terminal molybdenum oxo complex (BPzPy)Mo(IV)O, , by hydrogen atom abstraction using the aryl oxyl reagent ArO• (Ar = 2,4,6-tri--butylphenyl).

Oxidation-induced ambiphilicity triggers N-N bond formation and dinitrogen release in octahedral terminal molybdenum(v) nitrido complexes.

Coupling of octahedral, terminal d molybdenum(v) nitrido complexes supported by a dianionic pentadentate ligand N-N bond formation to give μ-dinitrogen complexes was found to be thermodynamically feasible but faces significant kinetic barriers. However, upon oxidation, a kinetically favored nucleophilic/electrophilic N-N bond forming mechanism was enabled to give monocationic μ-dinitrogen dimers. Computational and experimental evidence for this "oxidation-induced ambiphilic nitrido coupling" mechanism is presented.

Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.

Background: Williams Beuren Syndrome (WBS) is a well-recognized and common genetic cause of congenital heart defects, developmental delay, hypercalcemia, and characteristic facial features. It is caused by a 1.5 - 1.

Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.

Background: Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta, inherited autosomal recessively and presenting with the concurrence of bone fragility and congenital contractures of large joints. The disease usually progresses relentlessly to result in recurrent fractures, short stature, severe kyphoscoliosis, and susceptibility to recurrent respiratory tract infections.

Case Presentation: The index child was a male newborn to healthy, nonconsanguineous, Sinhalese parents.