Search results for " inversion"

Inherited pericentric inversion of human chromosome 5.

1983

Une inversion pericentrique heterozygote du chromosome 5 a ete decouverte dans les cellules de la moelle osseuse et dans les lymphocytes peripheriques stimules par le phytohemagglutinine d'une femme de 75 ans atteinte de myelofibrose et de metaplasie myeloide. L'inversion etait presente dans 100% des metaphases etudiees. Les points de cessure du chromosome 5 etaient localises en k15 et q10. Une etude de la famille est presentee

Mixture analysis using SWaP™ SNPs and non-biallelic SNPs

2006

Abstract Improved analysis of degraded samples, increased throughput, and a wider choice of typing platforms are some of the significant advantages offered by single nucleotide polymorphism (SNP) genotyping over established short tandem repeat (STR)-based systems. However, DNA mixtures present a considerable problem to SNP analysis as there is currently no generally accepted technique that allows recognition of the presence of a mixed profile or identification of the individual contributors. We present the first demonstration of SNP mixture analysis with an approach based upon the use of two rare subsets of SNPs: SWaP™ SNPs and non-biallelic SNPs and discuss their value for forensic mixture…

Healthy 12-year-old boy with mosaic inv dup(15)(q13)

2006

Brief communication. Karyotype analysis, banding, and fluorescent in situ hybridization in the scarab beetle Gymnopleurus sturmi McLeay (Coleoptera S…

2000

Conventional staining, differential banding, and in situ hybridization with both ribosomal and telomeric probes to mitotic chromosomes of Gymnopleurus sturmi (Scarabaeoidea : Scarabaeidae) are described. The karyotype is distinguished by a pericentric inversion polymorphism in chromosome 3, which is either acrocentric or subtelocentric. Silver staining (Ag-NOR) and chromomycin A3 (CMA3), failed to study the detection of nucleolar organizer regions (NORs), due to the extensive silver and CMA3 stainability of all GC-rich heterochromatin. Fluorescent in situ hybridization (FISH) using a Paracentrotus lividus (Echinodermata) rDNA probe mapped the ribosomal RNA genes (rDNA). FISH with the all-hu…

PATTERNS OF PUFFING ACTIVITY AND CHROMOSOMAL POLYMORPHISM IN DROSOPHILA SUBOBSCURA . IV. EFFECT OF INVERSIONS ON GENE EXPRESSION

1988

We have observed that, contrary to a common assumption, the puffing patterns manifest in the salivary chromosomes of Drosophila subobscura are modified by chromosomal inversions as well as by genic content. An inversion effect is apparent in the E and A chromosomes of five strains coming from four different natural populations. An effect due to the geographical location of the populations is also detected in the J and O chromosomes. The chromosomal and geographic effects are distinguishable but not contradictory. Indeed, a statistical test using the DK2 coefficient of distance shows that, for a given chromosomal arrangement, strains of different geographic origin exhibit puffing patterns si…

Genomic structure and paralogous regions of the inversion breakpoint occurring between human chromosome 3p12.3 and orangutan chromosome 2.

2003

Intrachromosomal duplications play a significant role in human genome pathology and evolution. To better understand the molecular basis of evolutionary chromosome rearrangements, we performed molecular cytogenetic and sequence analyses of the breakpoint region that distinguishes human chromosome 3p12.3 and orangutan chromosome 2. FISH with region-specific BAC clones demonstrated that the breakpoint-flanking sequences are duplicated intrachromosomally on orangutan 2 and human 3q21 as well as at many pericentromeric and subtelomeric sites throughout the genomes. Breakage and rearrangement of the human 3p12.3-homologous region in the orangutan lineage were associated with a partial loss of dup…

Calculation and inversion of two-dimensional gravity in the vicinity of Lake Tuz, Turkey

2000

Abstract An example of gravity inversion and interpretation is presented which demonstrates how a priori information can be used to derive reliable, though complex models. In this case, the geometry of the studied model profile has been constructed on the basis of seismic and geological data. The densities used in the forward calculations were obtained from laboratory measurements of drill cores, from density-velocity relationships, and from Nettleton’s method of fitting gravity and topography. In the seismic section 21 ‘formations’ are distinguished leading to a very complex gravity model. What is called ‘formations’ here, are two-dimensional bodies which are distinguished from each other …

Liver haemangiomas undetermined at grey-scale ultrasound: contrast-enhancement patterns with SonoVue and pulse-inversion US.

2005

The objective of this study was to describe the spectrum of contrast-enhancement patterns of hepatic haemangiomas undetermined at grey-scale ultrasound (US) on SonoVue-enhanced pulse-inversion (PI) US. Twenty patients (11 women, nine men) with 35 haemangiomas (size range: 1-7 cm; mean: 3.1 cm) undetermined at baseline US underwent PI at low M.I. (0.05-0.08) after i.v. injection of SonoVue. All haemangiomas were confirmed by typical helical computed tomography (CT) and/or magnetic resonance imaging (MRI) findings. US examinations were videotaped and then reviewed by two experienced radiologists blinded to the final diagnosis. Readers evaluated by consensus the baseline echogenicity and the d…

Experimental Sentinel-2 LAI estimation using parametric, non-parametric and physical retrieval methods – A comparison

2015

Abstract Given the forthcoming availability of Sentinel-2 (S2) images, this paper provides a systematic comparison of retrieval accuracy and processing speed of a multitude of parametric, non-parametric and physically-based retrieval methods using simulated S2 data. An experimental field dataset (SPARC), collected at the agricultural site of Barrax (Spain), was used to evaluate different retrieval methods on their ability to estimate leaf area index (LAI). With regard to parametric methods, all possible band combinations for several two-band and three-band index formulations and a linear regression fitting function have been evaluated. From a set of over ten thousand indices evaluated, the …

The time course of face matching by internal and external features: Effects of context and inversion.

2010

AbstractEffects of context and inversion were studied in face matching tasks by measuring proportion correct as a function of exposure duration. Subjects were instructed to attend either internal features (task A) or external features (task B) and matched two consecutive face stimuli, which included either congruent, incongruent, or no facial context features. In congruent contexts matching performance rose fast and took very similar courses for both types of facial features. With no contexts internal and external features were found to be matched at an equal speed, while incongruent contexts seriously delayed matching performance for internal, but not for external features. Analysing the e…