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

The low-mass population of the Rho Ophiuchi molecular cloud

Star formation theories are currently divergent regarding the fundamental physical processes that dominate the substellar regime. Observations of nearby young open clusters allow the brown dwarf (BD) population to be characterised down to the planetary mass regime, which ultimately must be accommodated by a successful theory. We hope to uncover the low-mass population of the Rho Ophiuchi molecular cloud and investigate the properties of the newly found brown dwarfs. We use near-IR deep images (reaching completeness limits of approximately 20.5 mag in J, and 18.9 mag in H and Ks) taken with the Wide Field IR Camera (WIRCam) at the Canada France Hawaii Telescope (CFHT) to identify candidate members of Rho Oph in the substellar regime. A spectroscopic follow-up of a small sample of the candidates allows us to assess their spectral type, and subsequently their temperature and membership. We select 110 candidate members of the Rho Ophiuchi molecular cloud, from which 80 have not previously been associated with the cloud. We observed a small sample of these and spectroscopically confirm six new brown dwarfs with spectral types ranging from M6.5 to M8.25

Fault Localization in Multi-Threaded C Programs using Bounded Model Checking (extended version)

Software debugging is a very time-consuming process, which is even worse for multi-threaded programs, due to the non-deterministic behavior of thread-scheduling algorithms. However, the debugging time may be greatly reduced, if automatic methods are used for localizing faults. In this study, a new method for fault localization, in multi-threaded C programs, is proposed. It transforms a multi-threaded program into a corresponding sequential one and then uses a fault-diagnosis method suitable for this type of program, in order to localize faults. The code transformation is implemented with rules and context switch information from counterexamples, which are typically generated by bounded model checkers. Experimental results show that the proposed method is effective, in such a way that sequential fault-localization methods can be extended to multi-threaded programs.Comment: extended version of paper published at SBESC'1