A complete set of human telomeric probes and their clinical application

Human chromosomes terminate with specialized telomeric structures including the simple tandem repeat (TTAGGG)n and additional complex subtelomeric repeats. Unique sequence DNA for each telomere is located 100-300 kilobases (kb) from the end of most chromosomes. A high concentration of genes and a number of candidate genes for recognizable syndromes are known to be present in telomeric regions. The human telomeric regions represent a major diagnostic challenge in clinical cytogenetics, because most of the terminal bands are G negative, and cryptic deletions and translocations in the telomeric regions are therefore difficult to detect by conventional cytogenetic methods. In fact, several submicroscopic chromosomal abnormalities in patients with undiagnosed mental retardation or multiple congenital anomalies have been identified by other molecular methods such as DNA polymorphism analysis. To improve the sensitivity for deletion detection and to determine whether such cryptic rearrangements represent a significant source of human pathology that has not been previously appreciated, it would be valuable to have specific FISH probes for all human telomeres. We report here the isolation and characterization of a complete set of specific FISH probes representing each human telomere. As most of these clones are at a known distance of within 100-300 kb from the end of the chromosome arm, this provides a 10-fold improvement in deletion detection sensitivity compared with high-resolution cytogenetics (2-3 Mb resolution). While testing these probes, we serendipitously identified a family with multiple members carrying a cryptic 1q;11p rearrangement in the balanced or unbalanced state

Measurement of the W -> tau nu(tau) cross section in pp collisions at root s=7 TeV with the ATLAS experiment

The cross section for the production of W bosons with subsequent decay W -> tau nu(tau) is measured with the ATLAS detector at the LHC. The analysis is based on a data sample that was recorded in 2010 at a proton-proton center-of-mass energy of root s = 7 TeV and corresponds to an integrated luminosity of 34 pb(-1). The cross section is measured in a region of high detector acceptance and then extrapolated to the full phase space. The product of the total W production cross section and the W -> tau nu(tau) branching ratio is measured to be sigma(tot)(W -> tau nu tau) = 11.1 +/- 0.3 (stat) +/- 1.7 (syst) +/- 0.4 (lumi) nb. (C) 2011 CERN. Published by Elsevier B.V. All rights reserved

Searches for supersymmetry with the ATLAS detector using final states with two leptons and missing transverse momentum in root s=7 TeV proton-proton collisions

Results of three searches are presented for the production of supersymmetric particles decaying into final states with missing transverse momentum and exactly two isolated leptons, e or mu. The analysis uses a data sample collected during the first half of 2011 that corresponds to a total integrated luminosity of 1 fb(-1) of root s = 7 TeV proton-proton collisions recorded with the ATLAS detector at the Large Hadron Collider. Opposite-sign and same-sign dilepton events are separately studied, with no deviations from the Standard Model expectation observed. Additionally, in opposite-sign events, a search is made for an excess of same-flavour over different-flavour lepton pairs. Effective production cross sections in excess of 9.9 fb for opposite-sign events containing supersymmetric particles with missing transverse momentum greater than 250 GeV are excluded at 95% CL For same-sign events containing supersymmetric particles with missing transverse momentum greater than 100 GeV, effective production cross sections in excess of 14.8 fb are excluded at 95% CL The latter limit is interpreted in a simplified electroweak gaugino production model excluding chargino masses up to 200 GeV, under the assumption that slepton decay is dominant. (C) 2012 CERN. Published by Elsevier B.V. All rights reserved