209 research outputs found

    Apparent and actual galaxy cluster temperatures

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    The redshift evolution of the galaxy cluster temperature function is a powerful probe of cosmology. However, its determination requires the measurement of redshifts for all clusters in a catalogue, which is likely to prove challenging for large catalogues expected from XMM--Newton, which may contain of order 2000 clusters with measurable temperatures distributed around the sky. In this paper we study the apparent cluster temperature, which can be obtained without cluster redshifts. We show that the apparent temperature function itself is of limited use in constraining cosmology, and so concentrate our focus on studying how apparent temperatures can be combined with other X-ray information to constrain the redshift. We also briefly study the circumstances in which non-thermal spectral features can give redshift information.Comment: 7 pages LaTeX file with 13 figures incorporated (uses mn.sty and epsf). Minor changes to match MNRAS accepted versio

    Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

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    <p>Abstract</p> <p>Background</p> <p>Microdeletion syndromes are generally identified because they usually give rise to specific phenotypic features; many of these deletions are mediated by duplicons or LCRs. The phenotypes associated with subtelomeric deletions are also becoming recognised. However, reciprocal duplication events at these loci are less easily recognised and identified, as they may give rise to milder phenotypic features, and the individuals carrying them may not therefore be referred for appropriate testing. 403 patients with developmental delay and/or dysmorphism, referred to our Genetics Centre for karyotyping and Fragile X expansion testing, were assessed for chromosome imbalance by Multiplex Ligation-dependent Probe Amplification (MLPA). Two MLPA kits were used, one containing probes for the subtelomere regions, and one containing probes for common microdeletion loci. 321 patients were tested with both kits, 75 with the subtelomere kit alone, and 7 with the microdeletion kit alone.</p> <p>Results</p> <p>32 patients had abnormal results; the overall abnormality detection rate was 2.5% for karyotype analysis and 7.2% for MLPA testing; 5.5% of subtelomere tests and 2.1% of microdeletion tests gave abnormal results. Of the abnormal MLPA results, 5 were in cases with cytogenetically visible abnormalities; of the remaining, submicroscopic, changes, 3 results were established as de novo and 8 were inherited; parental samples were not available for the remaining cases. None of the patients was found to have a Fragile X expansion.</p> <p>Conclusion</p> <p>Karyotype analysis in combination with MLPA assays for subtelomeres and microdeletion loci may be recommended for this patient group.</p

    A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

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    <p>Abstract</p> <p>Background</p> <p>Proximal 22q is rich in low copy repeats (LCRs) which mediate non-allelic homologous recombination and give rise to deletions and duplications of varying size depending on which LCRs are involved.</p> <p>Methods</p> <p>A child with multiple septal defects and other congenital anomalies was investigated for genome imbalance using multiplex ligation-dependent probe amplification (MLPA) for subtelomeres and microdeletion loci, followed by array comparative genomic hybridization (CGH) using oligonucleotide arrays with 44,000 probes across the genome.</p> <p>Results</p> <p>MLPA identified a single probe deletion in the SNAP29 gene within band 22q11.21. Follow-up array CGH testing revealed a ~1.4-Mb deletion from 19,405,375 bp to 20,797,502 bp, encompassing 28 genes.</p> <p>Conclusion</p> <p>This deletion is likely to be causally associated with the proband's congenital anomalies. Previous publications describing deletions in proximal 22q have reported deletions between LCRs 1 to 4, associated with 22q11 deletion syndrome; in addition, deletions between LCRs 4 and 6 have been described associated with "distal 22q11 deletion syndrome". To our knowledge, this is the first deletion which spans LCR4 and is not apparently mediated by LCRs. Comparison of the phenotypes found in conjunction with previously reported deletions, together with the function and expression patterns of genes in the deleted region reported here, suggests that haploinsufficiency for the Crk-like (CRKL) gene may be responsible for the reported cardiac abnormalities.</p

    Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

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    <p>Abstract</p> <p>Background</p> <p>Several studies have demonstrated that array comparative genomic hybridisation (CGH) for genome-wide imbalance provides a substantial increase in diagnostic yield for patients traditionally referred for karyotyping by G-banded chromosome analysis. The purpose of this study was to demonstrate the feasibility of and strategies for, the use of array CGH in place of karyotyping for genome imbalance, and to report on the results of the implementation of this approach.</p> <p>Results</p> <p>Following a validation period, an oligoarray platform was chosen. In order to minimise costs and increase efficiency, a patient/patient hybridisation strategy was used, and analysis criteria were set to optimise detection of pathogenic imbalance. A customised database application with direct links to a number of online resources was developed to allow efficient management and tracking of patient samples and facilitate interpretation of results. Following introduction into our routine diagnostic service for patients with suspected genome imbalance, array CGH as a follow-on test for patients with normal karyotypes (n = 1245) and as a first-line test (n = 1169) gave imbalance detection rates of 26% and 22% respectively (excluding common, benign variants). At least 89% of the abnormalities detected by first line testing would not have been detected by standard karyotype analysis. The average reporting time for first-line tests was 25 days from receipt of sample.</p> <p>Conclusions</p> <p>Array CGH can be used in a diagnostic service setting in place of G-banded chromosome analysis, providing a more comprehensive and objective test for patients with suspected genome imbalance. The increase in consumable costs can be minimised by employing appropriate hybridisation strategies; the use of robotics and a customised database application to process multiple samples reduces staffing costs and streamlines analysis, interpretation and reporting of results. Array CGH provides a substantially higher diagnostic yield than G-banded chromosome analysis, thereby alleviating the burden of further clinical investigations.</p

    The XMM Cluster Survey: The Dynamical State of XMMXCS J2215.9-1738 at z=1.457

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    We present new spectroscopic observations of the most distant X-ray selected galaxy cluster currently known, XMMXCS J2215.9-1738 at z=1.457, obtained with the DEIMOS instrument at the W. M. Keck Observatory, and the FORS2 instrument on the ESO Very Large Telescope. Within the cluster virial radius, as estimated from the cluster X-ray properties, we increase the number of known spectroscopic cluster members to 17 objects, and calculate the line of sight velocity dispersion of the cluster to be 580+/-140 km/s. We find mild evidence that the velocity distribution of galaxies within the virial radius deviates from a single Gaussian. We show that the properties of J2215.9-1738 are inconsistent with self-similar evolution of local X-ray scaling relations, finding that the cluster is underluminous given its X-ray temperature, and that the intracluster medium contains ~2-3 times the kinetic energy per unit mass of the cluster galaxies. These results can perhaps be explained if the cluster is observed in the aftermath of an off-axis merger. Alternatively, heating of the intracluster medium through supernovae and/or Active Galactic Nuclei activity, as is required to explain the observed slope of the local X-ray luminosity-temperature relation, may be responsible.Comment: 13 pages, 6 figures, accepted for publication in Ap

    The XMM Cluster Survey: a massive galaxy cluster at z = 1.45

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    We report the discovery of XMMXCS J2215.9-1738, a massive galaxy cluster at z=1.45, which was found in the XMM Cluster Survey. The cluster candidate was initially identified as an extended X-ray source in archival XMM data. Optical spectroscopy shows that six galaxies within a ~60" diameter region lie at z=1.45+/-0.01. Model fits to the X-ray spectra of the extended emission yield kT=7.4+2.7-1.8 keV (90% confidence); if there is an undetected central X-ray point source, then kT=6.5+2.6-1.8 keV. The bolometric X-ray luminosity is LX=4.4+0.8-0.6C 1044 ergs s-1 over a 2 Mpc radial region. The measured TX, which is the highest for any known cluster at z&gt;1, suggests that this cluster is relatively massive for such a high redshift. The redshift of XMMXCS J2215.9-1738 is the highest currently known for a spectroscopically confirmed cluster of galaxies

    Male sex pheromone components in Heliconius butterflies released by the androconia affect female choice.

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    Sex-specific pheromones are known to play an important role in butterfly courtship, and may influence both individual reproductive success and reproductive isolation between species. Extensive ecological, behavioural and genetic studies of Heliconius butterflies have made a substantial contribution to our understanding of speciation. Male pheromones, although long suspected to play an important role, have received relatively little attention in this genus. Here, we combine morphological, chemical and behavioural analyses of male pheromones in the Neotropical butterfly Heliconius melpomene. First, we identify putative androconia that are specialized brush-like scales that lie within the shiny grey region of the male hindwing. We then describe putative male sex pheromone compounds, which are largely confined to the androconial region of the hindwing of mature males, but are absent in immature males and females. Finally, behavioural choice experiments reveal that females of H. melpomene, H. erato and H. timareta strongly discriminate against conspecific males which have their androconial region experimentally blocked. As well as demonstrating the importance of chemical signalling for female mate choice in Heliconius butterflies, the results describe structures involved in release of the pheromone and a list of potential male sex pheromone compounds
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