Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype.

We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype-phenotype correlation between individual microarray and clinical findings adds to the emerging atlas of chromosomal abnormalities associated with specific prenatal ultrasound abnormalities

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up.

BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies. NIPS can identify fetal genomic microdeletions; however, sensitivity and specificity have not been systematically evaluated. Commercial companies have begun to offer expanded panels including screening for common microdeletion syndromes such as 22q11.2 deletion (DiGeorge syndrome) without reporting the genomic coordinates or whether the deletion is maternal or fetal. Here we describe a phenotypically normal mother and fetus who tested positive for atypical 22q deletion via maternal plasma cfDNA testing.MethodsWe performed cfDNA sequencing on saved maternal plasma obtained at 11 weeks of gestation from a phenotypically normal woman with a singleton pregnancy whose earlier screening at a commercial laboratory was reported to be positive for a 22q11.2 microdeletion. Fluorescence in situ hybridization and chromosomal microarray diagnostic genetic tests were done postnatally.ConclusionNIPS detected a 22q microdeletion that, upon diagnostic workup, did not include the DiGeorge critical region. Diagnostic prenatal or postnatal testing with chromosomal microarray and appropriate parental studies to determine precise genomic coordinates and inheritance should follow a positive microdeletion NIPS result

The Discovery of a Giant H-alpha Filament in NGC 7213

The nearby Seyfert galaxy NGC 7213 has been imaged in H-alpha and HI with the CTIO 1.5 m telescope and with the Australia Telescope Compact Array (ATCA), respectively. Optically NGC 7213 looks undisturbed and relatively featureless but the continuum-subtracted H-alpha image shows a 19 kpc long filament located approximately 18.6 kpc from the nucleus. The H-alpha filament could be neutral gas photo-ionized by the active nucleus, as has been suggested for the Seyfert galaxy NGC 5252, or shock-ionized by a jet interacting with the surrounding HI, as has been suggested for the radio galaxy PKS 2240-41. The HI map reveals NGC 7213 to be a highly disturbed system suggesting a past merging event.Comment: 14 pages including 4 figures and 1 table. Figures 1-4 are in jpeg format; Better quality images can be retrieved in postscript format at ftp://charon.nmsu.edu/pub/shameed/ ; Accepted for publication in ApJ Letter

The molecular polar disc in NGC 2768

We present CO(1-0) and CO(2-1) maps of the molecular polar disc in the elliptical galaxy NGC 2768 obtained at the IRAM Plateau de Bure Interferometer. The maps have a resolution of 2.6" x 2.3" and 1.2" x 1.2" for the CO(1-0) and CO(2-1) lines, respectively. The CO maps complete the unique picture of the interstellar medium (ISM) of NGC 2768; the dust, molecular gas, ionised gas and neutral hydrogen (HI) trace the recent acquisition of cold and cool gas over two orders of magnitude in radii (and much more in density). In agreement with the other ISM components, the CO distribution extends nearly perpendicularly to the photometric major axis of the galaxy. Velocity maps of the CO show a rotating polar disc or ring in the inner kiloparsec. This cool gas could lead to kinematic substructure formation within NGC 2768. However, the stellar velocity field and H-beta absorption linestrength maps from the optical integral-field spectrograph SAURON give no indication of a young and dynamically cold stellar population coincident with the molecular polar disc. Very recent or weak star formation, undetectable in linestrengths, nevertheless remains a possibility and could be at the origin of some of the ionised gas observed. Millimetre continuum emission was also detected in NGC 2768, now one of only a few low-luminosity active galactic nuclei with observed millimetre continuum emission.Comment: Accepted for publication in MNRAS, 11 pages, 8 figure

Particularly Efficient Star Formation in M33

The Star Formation (SF) rate in galaxies is an important parameter at all redshifts and evolutionary stages of galaxies. In order to understand the increased SF rates in intermediate redshift galaxies one possibility is to study star formation in local galaxies with properties frequently found at this earlier epoch like low metallicity and small size. We present sensitive observations of the molecular gas in M 33, a small Local Group spiral at a distance of 840 kpc which shares many of the characteristics of the intermediate redshift galaxies. The observations were carried out in the CO(2--1) line with the HERA heterodyne array on the IRAM 30 m telescope. A 11\arcmin$\times$22\arcmin region in the northern part of M 33 was observed, reaching a detection threshold of a few 10$^{3}$ \msol. The correlation in this field between the CO emission and tracers of SF (8\mum, 24\mum, \Ha, FUV) is excellent and CO is detected very far North, showing that molecular gas forms far out in the disk even in a small spiral with a subsolar metallicity. One major molecular cloud was discovered in an interarm region with no HI peak and little if any signs of SF -- without a complete survey this cloud would never have been found. The radial dependence of the CO emission has a scale length similar to the dust emission, less extended than the \Ha or FUV. If, however, the \ratioo ratio varies inversely with metallicity, then the scale length of the H$_2$ becomes similar to that of the \Ha or FUV. Comparing the SF rate to the H$_2$ mass shows that M 33, like the intermediate redshift galaxies it resembles, has a significantly higher SF efficiency than large local universe spirals.Comment: 16 pages, 15 figure

Galaxies with unusually high abundances of molecular hydrogen

A sample of 66 galaxies from the catalog of Bettoni et al. (CISM) with anomalously high molecular-to-atomic hydrogen mass ratios (M_{mol}/M_{HI}>2) is considered. The sample galaxies do not differ systematically from other galaxies in the catalog with the same morphological types, in terms of their photometric parameters, rotational velocities, dust contents, or the total mass of gas in comparison with galaxies of similar linear sizes and disk angular momentum. This suggests that the overabundance of $H_2$ is due to transition of HI to H_2. Galaxies with bars and active nuclei are found more frequently among galaxies which have M_{mol} estimates in CISM. In a small fraction of galaxies, high M_{mol}/M_{HI} ratios are caused by the overestimation of M_{mol} due to a low conversion factor for the translation of CO-line intensities into the number of H_2 molecules along the line of sight. It is argued that the "molecularization" of the bulk of the gas mass could be due 1) to the concentration of gas in the inner regions of the galactic disks, resulting to a high gas pressure and 2) to relatively low star-formation rate per unit mass of molecular gas which indeed takes place in galaxies with high M_{mol}/M_{HI} ratios.Comment: 11 pages,7 figures, published in Astronomy Report

Identification of a pleiotropic locus on chromosome 7q for a composite left ventricular wall thickness factor and body mass index: the HyperGEN Study

<p>Abstract</p> <p>Background</p> <p>Left ventricular (LV) mass and wall thickness are closely associated with measures of body size and blood pressure and also correlated with systolic and diastolic function, suggesting a contribution of common physiologic mechanisms, including pleiotropic genes, to their covariation.</p> <p>Methods</p> <p>Doppler echocardiography was performed in 434 African-American (1344 individuals) and 284 white families (1119 individuals). We conducted a genome-wide linkage scan for LV mass, LV structure and function, and composite factors derived from a factor analysis of LV structure and function in the HyperGEN Study population.</p> <p>Results</p> <p>Factor analysis identified (i) a LV wall thickness factor correlated strongly with interventricular septal thickness (IVSTd) and posterior wall thickness (PWTd) and (ii) a LV diastolic filling factor strongly correlated with early and atrial phase peak transmitral filling velocities. The LV phenotypes and composite factor scores were analyzed in multipoint variance components linkage model implemented in SOLAR with 387 microsatellite markers. In whites, the two highest LODs were 3.42 for LV atrial phase peak filling velocity at 144 cM on chromosome 1 and 3.12 for the LV wall thickness factor at 160 cM on chromosome 7. The peak LODs of the component traits (IVSTd and PWTd) clustered at the same region as the composite factor. Adjusting the factor score for body mass index (BMI) substantially reduced the peak LOD at this region (LOD = 1.92). Bivariate linkage analysis of the composite factor with BMI improved LOD to 3.42 at 158 cM. Also in whites, suggestive linkage was observed on chromosomes 2 and 4 for LV mass, chromosomes 3, 5, 10, and 17 for LV atrial phase peak filling velocity, and chromosome 10 for LV diastolic filling factor. In African Americans, suggestive linkage was observed on chromosome 12 for LV mass, chromosome 21 for IVSTd, and chromosome 3 for LV internal diameter at end-diastole.</p> <p>Conclusion</p> <p>Our study suggests that a region on chromosome 7 contains pleiotropic genes contributing to the variations of both LV wall thickness and BMI in whites.</p

The Stern-Gerlach Experiment Revisited

The Stern-Gerlach-Experiment (SGE) of 1922 is a seminal benchmark experiment of quantum physics providing evidence for several fundamental properties of quantum systems. Based on today's knowledge we illustrate the different benchmark results of the SGE for the development of modern quantum physics and chemistry. The SGE provided the first direct experimental evidence for angular momentum quantization in the quantum world and thus also for the existence of directional quantization of all angular momenta in the process of measurement. It measured for the first time a ground state property of an atom, it produced for the first time a `spin-polarized' atomic beam, it almost revealed the electron spin. The SGE was the first fully successful molecular beam experiment with high momentum-resolution by beam measurements in vacuum. This technique provided a new kinematic microscope with which inner atomic or nuclear properties could be investigated. The original SGE is described together with early attempts by Einstein, Ehrenfest, Heisenberg, and others to understand directional quantization in the SGE. Heisenberg's and Einstein's proposals of an improved multi-stage SGE are presented. The first realization of these proposals by Stern, Phipps, Frisch and Segr\`e is described. The set-up suggested by Einstein can be considered an anticipation of a Rabi-apparatus. Recent theoretical work is mentioned in which the directional quantization process and possible interference effects of the two different spin states are investigated. In full agreement with the results of the new quantum theory directional quantization appears as a general and universal feature of quantum measurements. One experimental example for such directional quantization in scattering processes is shown. Last not least, the early history of the `almost' discovery of the electron spin in the SGE is revisited.Comment: 50pp, 17 fig