AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsAnthropology, Education, Sociology and Social PhenomenaInformation ScienceHealth CareGeographicals
Chromosome AberrationsChromosomesKaryotypingChromosome MappingIn Situ Hybridization, FluorescenceChromosomes, HumanChromosome BandingAneuploidySorboseChromosome PositioningChromosomes, Human, 6-12 and XChromosomes, FungalTranslocation, GeneticSister Chromatid ExchangeTrisomySex Chromosome AberrationsCentromereInterphaseChromosomes, Human, Pair 1X ChromosomeChromosome DisordersMicronucleus TestsMutagenicity TestsGenetic MarkersHybrid CellsChromosome PaintingChromosomes, Human, Pair 11Chromosomes, Human, Pair 7Genetic LinkageSex ChromosomesMutagensNuclear WarfareCorneal Wavefront AberrationChromosome DeletionCytogeneticsCytogenetic AnalysisNucleic Acid HybridizationChromosomes, Human, Pair 13AmericiumLymphocytesChromosomes, Human, Pair 17Chromosome SegregationChromosome BreakageChromosomes, BacterialChromosomes, Human, Pair 4Radiation GeneticsChromosomes, Human, Pair 6TriethylenemelaminePhenotypeChromosomes, Human, Pair 9MetaphaseChromosomes, Human, Pair 21Linear Energy TransferMicronuclei, Chromosome-DefectiveChromosomes, Human, Pair 18Chromosomes, PlantChromosomes, Human, Pair 16Chromosomes, Human, Pair 2Chromosomes, Human, Pair 8Chromosomes, Human, Pair 22Chromosomes, MammalianChromosome PairingChromosomes, Human, Pair 10Chromosomes, Human, Pair 19Chromosomes, Human, Pair 12Chromosomes, Artificial, BacterialChromosomes, Human, Pair 5Chromosomes, Human, YDNA DamageChromosomal InstabilityChromosomes, Human, 1-3Chromosomes, Human, XChromatidsDose-Response Relationship, RadiationChromosomes, Human, Pair 14Background RadiationChromosomes, Human, Pair 20Azure StainsRadioactive Hazard ReleaseChromosomes, Human, Pair 15StyrenesMosaicismMitosisMitotic IndexAberrometryMutationAlpha ParticlesChromosomes, Human, 16-18HempaGamma RaysKazakhstanChromosomes, Artificial, YeastRelative Biological EffectivenessChromosomes, Human, 13-15IsochromosomesArmeniaChromosomes, Human, 21-22 and YChromosome InversionCricetinaeRadiation Injuries
Chromosomal aberrationVitroInduceGenomicAbnormalitiesTranslocationCytogenetic aberrationsTumorMutationBreakageKaryotypeSpecificityGeneticAcute lymphoblGenesProbesMicronucleusTranslocationsStructuralNeoplasmsLymphocytesMutationsPilotsBandingClinicalHumansStudyLocusStrandRadiationHumanDetectCancerDescriptorAnalysisCopiesFusionsCellsGenomeCancersSegmentCellLargeDisordersProfilesForm
Chromosomal aberration3
  • Since nuclear swelling (NS hereafter) has been frequently observed in chromosomal aberration (CA hereafter) tests (in vitro), the relationship between NS and CAs was investigated in this study. (biomedcentral.com)
  • The test substance is considered to cause structural chromosomal aberrations in cultured mammalian cells according to an in vitro OECD 473 chromosomal aberration assay. (europa.eu)
  • Down Syndrome (DS) is the most common chromosomal aberration resulting from trisomy of the chromosome 21. (bvsalud.org)
Vitro3
  • The sensitivity, accuracy and feasibility of application of SCE as an in vitro screening test has been evaluated against cytogenetic aberrations and the Ames test. (soton.ac.uk)
  • Three in vitro assays (Ames, cytogenicity/ chromosomal aberrations and HGPRT) were negative with tin bis(2 -ethylhexanoate). (europa.eu)
  • In this report, in vitro assays are considered validated when their results have been proven to predict a specific effect in animals and/or humans with reasonable certainty (not necessarily universally accepted or without detractors). (nationalacademies.org)
Induce3
  • In addition the substance did not induce chromosome aberrations in a chromosome aberration study wit and without metabolic activation. (europa.eu)
  • The test chemical did not induce chromosome aberrations in the mammalian cell line in the presence and absence of S9 metabolic activation system and hence it is not mutagenic in the chromosome aberration study performed. (europa.eu)
  • The test item did not induce a significant level of chromosome aberrations in Chinese hamster V79 cells in the performed experiments with and without metabolic activation. (europa.eu)
Genomic7
  • Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade. (bmj.com)
  • This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. (hindawi.com)
  • These data demonstrate the presence of cells in irrigation specimens with specific genomic lesions of chromosome 9 and DNA content. (johnshopkins.edu)
  • The database represents a unique international resource that enables clinicians to quickly find relevant information on cytogenetic aberrations and gene fusions in cancer and relate the findings to clinical data, in particular the diagnostic and prognostic significance of specific cytogenetic/genomic changes. (lu.se)
  • The continuously updated material also makes it possible to address scientific questions related to the mechanisms through which chromosomal/genomic changes participate in the carcinogenic process by elucidating why, how and when chromosome abnormalities are formed, the chromosomal anatomy of cytogenetic changes and genes involved in fusions, the role chromosome aberrations play in the formation of fusion genes, and the mechanisms by which gene fusions exert their effects. (lu.se)
  • Mitelman F, Johansson B, Mertens F, Schyman T, Mandahl N. Cancer chromosome breakpoints cluster in gene-rich genomic regions. (lu.se)
  • This study investigated the molecular characteristics of ESS patients at the genomic and transcriptomic levels and revealed the potentially high sensitivity of targeted therapy and immunotherapy in a subset of HGESS with specific molecular features, providing a basis for guiding decision-making of treatment and the design of future clinical trials on precision therapy. (e-crt.org)
Abnormalities4
Translocation4
  • We identified a novel 10 kb brain-specific cDNA interrupted by a balanced translocation in an XLIS patient that encodes a novel 40 kDa predicted protein named Doublecortin. (nih.gov)
  • Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. (scielo.br)
  • Despite the large chromosome fragments involved in the unbalanced translocation in this case, repeated standard G-band analysis could not reveal this rearrangement due to the similarity in the banding pattern of the chromosome fragments involved. (bmj.com)
  • The remaining cases are due translocation, mosaicism and partial trisomy of the chromosome 21. (bvsalud.org)
Cytogenetic aberrations2
  • A method is proposed to allow quantitative estimates to be made of mutation frequency.The induction of SCE and cytogenetic aberrations in human lymphocytes and point-mutation in Salmonella has been investigated following exposure to a range of selected direct-acting chemical mutagens. (soton.ac.uk)
  • The Database of Chromosome Aberrations and Gene Fusions in Cancer, established in 1980, is an attempt to register systematically all published cytogenetic aberrations reported in cancer, including patient and tumor characteristics, gene fusions identified by cytogenetics or massively parallel sequencing, and studies pertaining to the clinical relevance of cytogenetic aberrations and/or gene rearrangements. (lu.se)
Tumor2
  • Results: Sensitivity of chromosome 9 FISH was 42% for all tumors and was not correlated to transitional cell carcinoma tumor grade, while the sensitivity of DNA cytometry was 55% and improved with increasing grade from 38% for grade 1 to 90% for grade 3 tumors. (johnshopkins.edu)
  • Researchers have identified several possible tumor suppressor genes in the deleted region of chromosome 1, and more research is needed to understand what role these genes play in neuroblastoma development. (medlineplus.gov)
Mutation2
  • These include constantly some highly specific chromosome aberrations, which, when associated with other factors, lead to the conclusion that TVT derives from cells that have undergone a mutation caused by a still unknown factor. (vin.com)
  • Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers. (uniklinikum-dresden.de)
Breakage2
  • DNA intercalation leads to chromosome breakage rather than SCE. (soton.ac.uk)
  • It is observed that both biological effects and epidemiological effects appear to be the same or very similar from ELF exposure and from RF/MW exposures, including calcium ion efflux, melatonin reduction, DNA strand breakage, chromosome aberrations, leukaemia, brain cancer, breast cancer, miscarriage and neurological effects. (whale.to)
Karyotype1
Specificity1
  • Objectives: To determine the sensitivity and specificity of combining fluorescence in situ hybridization (FISH) measurement of chromosome 9 and DNA cytometry of bladder irrigation specimens in the detection of bladder cancer. (johnshopkins.edu)
Genetic6
  • Any substance that damages DNA or chromosomes, or changes genetic activity, is genotoxic because it is acting on the same material, i.e. the DNA molecule. (whale.to)
  • Despite extensive genetic and biological research, significant controversy surrounds our understanding of the specific mechanisms of their pathogenesis. (mdpi.com)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. (medlineplus.gov)
  • A 1q21.1 microduplication is a copied (duplicated) segment of genetic material at position q21.1 on one of the two copies of chromosome 1 in each cell. (medlineplus.gov)
  • Details range from estimated numbers of Europeans suffering from specific genetic diseases to the average annual costs, per patient, of treatment, from advice on the safety and reliability of screening tests to a point-by-point account of deficiencies in most existing services. (who.int)
Acute lymphobl1
  • Philadelphia chromosome-positive acute lymphoblastic leukemia secondary to chemoradiotherapy for Ewing sarcoma. (who.int)
Genes6
  • We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
  • Genes Chromosomes Cancer 58:149-154, 2019. (lu.se)
  • Genes Chromosomes Cancer 55:291-310, 2016. (lu.se)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • Chromosome 1 likely contains 2,000 to 2,100 genes that provide instructions for making proteins. (medlineplus.gov)
  • researchers are working to determine which specific genes are involved and how they relate to these features. (medlineplus.gov)
Probes2
Micronucleus1
  • Most carcinogens that cause NS are genotoxins, which cause DNA damage, chromosomal aberrations (CAs), and micronucleus formation. (biomedcentral.com)
Translocations2
  • We examined the intakes of these B vitamins and their food sources in relation to the frequency of chromosome translocations as a biomarker of cumulative DNA damage, in eighty-two male airline pilots. (cambridge.org)
  • Translocations in peripheral blood lymphocytes were scored by using fluorescence in situ hybridisation whole-chromosome painting. (cambridge.org)
Structural3
  • These results strongly suggest that NS is mainly caused by structural aberrations in the nucleus during interphase of the cell cycle. (biomedcentral.com)
  • Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)
  • This is a highly selective list aiming to capture structural abnormalies which are frequesnt and/or significant in relation to diagnosis, prognosis, and/or characterising specific cancers. (cancer-genetics.org)
Neoplasms1
  • Increased risk of lymphoid neoplasms in patients with Philadelphia chromosome-negative myeloproliferative neoplasms. (who.int)
Lymphocytes1
  • Ten cases with known cryptic aberrations were selected (seven cases with subtelomeric rearrangements, one case with an interstitial deletion and two cases with microdeletion syndromes: one case with DiGeorge syndrome and one case with a microdeletion of 17p11 (Smith Magenis syndrome) in 60% of the lymphocytes). (bmj.com)
Mutations2
  • Hematological disorders are typically associated with hematopoietic stem cells mutations and chromosomal aberrations such as aneuploidy or euploidy ( Zagozdzon and Golab, 2015 ZAGOZDZON, R. and GOLAB, J., 2015. (scielo.br)
  • These assays can detect mutations in the Tk gene that result from both gene mutations and chromosome damage. (biomedcentral.com)
Pilots2
  • Objectives: US commercial airline pilots, like all flight crew, are at increased risk for specific cancers, but the relation of these outcomes to specific air cabin exposures is unclear. (cdc.gov)
  • Our objectives were to develop methods to estimate exposures to cosmic radiation and circadian disruption for a study of chromosome aberrations in pilots and to describe workplace exposures for these pilots. (cdc.gov)
Banding2
  • Earlier, unpublished versions of the NIOSH Occupational Exposure Banding process included band-specific ranges that approximate the GHS hazard categories, but has refined these cut points based on exposure response analyses, comparisons of OEBs to current OELs, and technical expertise. (cdc.gov)
  • In addition to routine chromosome analysis, we perform high-resolution and specialized banding techniques. (wakehealth.edu)
Clinical1
  • In the past, PCa prognosis has benefitted from a detailed understanding of the relationship between the clinical course of the disease and patient-specific molecular profiles. (biomedcentral.com)
Humans3
  • In humans, MAP11 is located in the long arm of human chromosome 7 (7q22.1), and is on the negative (antisense) strand. (wikipedia.org)
  • effects correlate with a specific adverse health effect in humans or animals. (nationalacademies.org)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
Study1
Locus1
  • The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
Strand1
  • This promoter is 657 base pairs long and is located at position 99756182 to 99756838 in the negative strand of chromosome 7. (wikipedia.org)
Radiation1
Human2
  • The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. (harvard.edu)
  • Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing approximately 8 percent of the total DNA in cells. (medlineplus.gov)
Detect2
  • Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.com)
  • See Chronic Leukemias: 4 Cancers to Differentiate , a Critical Images slideshow, to help detect chronic leukemias and determine the specific type present. (medscape.com)
Cancer2
  • We also identify AA-specific copy-number-based arm-, focal- and gene-level recurrent features in lung cancer, including higher frequencies of PTEN deletion and KRAS amplification. (nature.com)
  • For a much more extensive list see the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer . (cancer-genetics.org)
Descriptor1
  • Chromosome Duplication" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
Analysis1
  • Analysis using the SAPS tool from the SDSC Biology Workbench showed this glycine-rich region to not be conserved in terms of specific glycine residue positions, but is well conserved in overall glycine content in mammals and reptiles, although not in bony fishes. (wikipedia.org)
Copies3
  • Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 1. (medlineplus.gov)
  • This phenomenon occurs during spermatogenesis, resulting in three copies of the chromosome 21. (bvsalud.org)
Fusions1
  • Our gene fusion characterization workflow revealed two potential novel fusions specific for PCa. (biomedcentral.com)
Cells2
  • FLT3 (FMS-related tyrosine kinase 3) located on chromosome 13q12.2 encodes a receptor tyrosine kinase (RTK) that activates the Ras and PI3 kinase pathway leading to the increased proliferation and inhibition of apoptosis in hemopoietic progenitor cells [ 7 ]. (hindawi.com)
  • [ 3 ] Taken together, these findings have led some to speculate that LCH is not a specific disease of epidermal Langerhans cells, but rather one of mononuclear phagocyte dysregulation. (medscape.com)
Genome1
  • 19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.com)
Cancers1
  • Data table showing topics related to specific cancers and associated disorders. (cancerindex.org)
Segment2
  • An aberration in which an extra chromosome or a chromosomal segment is made. (harvard.edu)
  • In other cases, individuals have a shorter or longer duplicated segment within the q21.1 region of chromosome 1. (medlineplus.gov)
Cell3
Large1
  • They then fold themselves into the set of chromosomes that are so large that they can be seen in powerful microscopes. (whale.to)
Disorders1
  • Chromosome specific micro-arrays have however been used in a few cases to determine the critical regions in microdeletion disorders. (bmj.com)
Profiles2
  • This graph shows the total number of publications written about "Chromosome Duplication" by people in Harvard Catalyst Profiles by year, and whether "Chromosome Duplication" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "Chromosome Duplication" by people in Profiles. (harvard.edu)
Form1