Characterization of a rare analphoid supernumerary marker chromosome in mosaic

Abstract publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA. These marker chromosomes cannot be identified unambiguously by conventional banding techniques alone being necessary to apply molecular cytogenetic methods in favour of a detailed characterization. In this work we report an analphoid SMC involving the terminal long arm of chromosome 7, in 9 years-old boy with several dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20 % of lymphocytes and 73 % of fibroblast cells. FISH analysis with alpha-satellite probes for all chromosomes, whole chromosome painting probe for chromosome 7, and D7S427 and TelVysion 7q probes, allowed establishing the origin of the SMC as an analphoidmarker resulting of an invdup rearrangement of 7q36-qter region. Affimetrix CytoScan HD microarray analysis, redefined the SMC to arr[hg19] 7q35(143696249-159119707)×2~3, which correspond to a gain of 15.42 Mb and encloses 67 OMIM genes, 16 of which are associated to disease. This result, combined with detailed clinical description, will provide an important means for better genotype-phenotype correlation and a more suitable genetic counselling to the patient and his parents, despite the additional difficulty resulting from being a mosaic (expression varies in different tissues). Analphoid SMCs derived from chromosome 7 are very rare, with only three cases reported so far. With this case we hope contribute to a better understanding of this type of chromosome rearrangements which are difficult for genetic counselling

Renormalized Equilibria of a Schloegl Model Lattice Gas

A lattice gas model for Schloegl's second chemical reaction is described and analyzed. Because the lattice gas does not obey a semi-detailed-balance condition, the equilibria are non-Gibbsian. In spite of this, a self-consistent set of equations for the exact homogeneous equilibria are described, using a generalized cluster-expansion scheme. These equations are solved in the two-particle BBGKY approximation, and the results are compared to numerical experiment. It is found that this approximation describes the equilibria far more accurately than the Boltzmann approximation. It is also found, however, that spurious solutions to the equilibrium equations appear which can only be removed by including effects due to three-particle correlations.Comment: 21 pages, REVTe

Limitations on the superposition principle: superselection rules in non-relativistic quantum mechanics

The superposition principle is a very basic ingredient of quantum theory. What may come as a surprise to many students, and even to many practitioners of the quantum craft, is tha superposition has limitations imposed by certain requirements of the theory. The discussion of such limitations arising from the so-called superselection rules is the main purpose of this paper. Some of their principal consequences are also discussed. The univalence, mass and particle number superselection rules of non-relativistic quantum mechanics are also derived using rather simple methods.Comment: 22 pages, no figure

Entangling two superconducting LC coherent modes via a superconducting flux qubit

Based on a pure solid-state device consisting of two superconducting LC circuits coupled to a superconducting flux qubit, we propose in this paper that the maximally entangled coherent states of the two LC modes can be generated for arbitrary coherent states through flux qubit controls.Comment: 5 pages, 2 figure

Black hole formation in bidimensional dilaton gravity coupled to scalar matter systems

This work deals with the formation of black hole in bidimensional dilaton gravity coupled to scalar matter fields. We investigate two scalar matter systems, one described by a sixth power potential and the other defined with two scalar fields containing up to the fourth power in the fields. The topological solutions that appear in these cases allow the formation of black holes in the corresponding dilaton gravity models.Comment: Latex, 9 pages. Published in Mod. Phys. Lett. A14 (1999) 268

Fluctuation-Induced Casimir Forces in Granular Fluids

We have numerically investigated the behavior of driven non-cohesive granular media and found that two fixed large intruder particles, immersed in a sea of small particles, experience, in addition to a short range depletion force, a long range repulsive force. The observed long range interaction is fluctuation-induced and we propose a mechanism similar to the Casimir effect that generates it: the hydrodynamic fluctuations are geometrically confined between the intruders, producing an unbalanced renormalized pressure. An estimation based on computing the possible Fourier modes explains the repulsive force and is in qualitative agreement with the simulations.Comment: 4 pages, 3 figures. Accepted in Phys. Rev. Letter