The cooling of atomic and molecular gas in DR21

We present an overview of a high-mass star formation region through the major (sub-)mm, and far-infrared cooling lines to gain insight into the physical conditions and the energy budget of the molecular cloud. We used the KOSMA 3m telescope to map the core ($10'\times 14'$) of the Galactic star forming region DR 21/DR 21 (OH) in the Cygnus X region in the two fine structure lines of atomic carbon CI and four mid-$J$ transitions of CO and $^{13}$CO, and CS J=7\TO6. These observations have been combined with FCRAO J=1\TO0 observations of $^{13}$CO and C$^{18}$O. Five positions, including DR21, DR21 (OH), and DR21 FIR1, were observed with the ISO/LWS grating spectrometer in the \OI 63 and 145 $\mu$m lines, the \CII 158 $\mu$m line, and four high-$J$ CO lines. We discuss the intensities and line ratios at these positions and apply Local Thermal Equilibrium (LTE) and non-LTE analysis methods in order to derive physical parameters such as masses, densities and temperatures. The CO line emission has been modeled up to J=20. From non-LTE modeling of the low- to high-$J$ CO lines we identify two gas components, a cold one at temperatures of T_\RM{kin}\sim 30-40 K, and one with T_\RM{kin}\sim 80-150 K at a local clump density of about n(H$_2$)$\sim 10^4-10^6$ cm$^{-3}$. While the cold quiescent component is massive containing typically more than 94 % of the mass, the warm, dense, and turbulent gas is dominated by mid- and high-$J$ CO line emission and its large line widths. The medium must be clumpy with a volume-filling of a few percent. The CO lines are found to be important for the cooling of the cold molecular gas, e.g. at DR21 (OH). Near the outflow of the UV-heated source DR21, the gas cooling is dominated by line emission of atomic oxygen and of CO

Expression of three rare fragile sites: chromosomal truncation, amplification of distal segment and telomeric renewal

Fluorescence in situ hybridization with a telomeric probe was used to monitor telomeric renewal following breakage induced by the rare fragile sites FRA10A, FRA12A and FRA16B. Interstitial telomere-like sequences were detected only at the break sites of FRA10A

Prenatal diagnosis of an extranumerary i(22p) with normal phenotype

A DA-Dapi and AgNOR-negative extranumerary chromosome was identified prenatally in a male fetus and also found in his normal father. Fluorescence in situ hybridization using repetitive DNA probes showed that the minute marker was positive at both ends for beta-satellite sequences, while its centromere was recognized by a 22 alphoid probe. It is concluded that the non-mosaic familial marker represents a 22p isochromosome

Different phenotypes in two cases of an apparently identical familial (Yq;13p) translocation

A chromosome 13 with extra material on the short arm was observed in a 17-year-old boy showing defects in skeletal growth, an altered hormone profile and asthenoteratozoospermia, and in a 46 XX fetus subjected to prenatal diagnosis. The abnormal chromosome 13 had been transmitted from phenotypically normal parents who were the mother (case 1) and the father (case 2). The extra material on the abnormal chromosome 13 was brightly fluorescent after Q-banding, and positive in C-banding (CBG) and distamycin A-Dapi (DA-Dapi) banding. Staining of the nucleolus organizer region indicated its retention. In-situ hybridization of a Yq-specific repetitive DNA probe to chromosomal spreads from both cases demonstrated that the der(13) chromosome contains sequences of the Yq heterochromatic region. However, the apparently identical unbalanced (Y;13) translocation may either interfere (case 1) or not (father of case 2) with meiotic or postmeiotic sperm cell development

Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms

Genes coding for the alpha5, alpha3, and beta4 subunits (CHRNA5, CHRNA3, and CHRNB4) of the neuronal nicotinic acetylcholine receptors (nAChRs) are clustered on chromosome 15q24. Linkage of this chromosomal region to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), an idiopathic partial epilepsy, was reported in one family. Moreover, mutations in other neuronal nAChR subunit genes coding for the alpha4 (CHRNA4) and the beta2 (CHRNB2) subunits were associated with ADNFLE. Apart from the exon-intron structure of CHRNA3, the genomic organization of this gene cluster was unknown, making comprehensive mutational analyses impossible. The genomic structure of CHRNA5 and CHRNB4 is here reported. Moreover, two hitherto unknown introns were identified within the 3' untranslated region of CHRNA3, causing a partial tail-to-tail overlap with CHRNA5. Four novel intragenic polymorphisms were identified and characterized in the cluster

Characterization of a non-recurrent familial translocation t(7;9)(q11.23;p24.3) points to a recurrent involvement of the Williams-Beuren syndrome region in chromosomal rearrangements

Recurrent and non-recurrent chromosomal rearrangements seem to reflect susceptibility to DNA rearrangements due to the presence of recombinogenic motifs in at least one partner chromosomal region. While specific genomic motifs such as AT-rich repeats, fragile sites and Alu repeats are often found in recurrent translocations, the molecular mechanisms underlying non-recurrent chromosomal rearrangements remain largely unknown. Here, we map the breakpoint region of a non-recurrent translocation, t(7;9)(q11.23;p24.3), present in a healthy woman who inherited the apparently balanced translocation from her mother and transmitted the same rearrangement to two sons \u2014respectively healthy and aborted. Characterisation by a two-step FISH analysis, first with BAC clones and then with small locus-specific probes, restricted the breakpoint intervals to 8\u201310 kb. Both regions contained specific Alu sequences, which, together with the flanking low copy repeat block Ac in 7q11.23, might stimulate the translocation. We noted that, although the translocation is non-recurrent, 7q11.23 is recurrently involved in different chromosomal rearrangements, supporting the hypothesis that the 7q11.23 genomic structure is prone to recombination event

A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning

Neocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosome and they influence the female reproductive capacity or are associated to Turner syndrome in the presence of monosomy X cell line