• Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. (wikipedia.org)
  • It would be more than a decade before other cancers were found to be associated with other, consistent chromosomal abnormalities. (laskerfoundation.org)
  • The permanent cell line (BXD-1425EPN), which was derived from a passage II xenograft tumor and has been passaged in vitro more than 70 times, expressed similar differentiation markers of the xenograft tumors, maintained identical chromosomal abnormalities, and formed tumors in the brains of SCID mice. (nih.gov)
  • In order to further classify the chromosomal abnormalities we used spectral karyotyping (SKY) a whole genome painting assay that can recognize complex genomic rearrangements. (healthyguide.info)
  • Spectral karyotyping analysis of metaphase chromosomes from primary tumor cell cultures shows that the Bcl-xl/Myc tumors contain a variety of chromosomal abnormalities, including trisomies, translocations, and deletions. (gsea-msigdb.org)
  • Chromosomal abnormalities cause various disorders. (msdmanuals.com)
  • Chromosomal abnormalities fit into several categories but broadly may be considered as numerical or structural. (msdmanuals.com)
  • It offers automated scanning and analysis of digital images of chromosomes and FISH probes, which can help to identify chromosomal abnormalities and genetic disorders. (dssimage.com)
  • Detection and precise genomic mapping of balanced chromosomal abnormalities in patients with impaired fertility or a clinical phenotype represent a challenge for current cytogenomics owing to difficulties with precise breakpoint localization in the regions enriched for DNA repeats and high genomic variation in such regions. (metasystems-probes.com)
  • Acute myeloid leukemia (AML) comprises a spectrum of myeloid malignancies which are often associated with distinct chromosomal abnormalities, and the analysis of such abnormalities provides us with important information for disease classification, treatment selection and prognosis. (biomedcentral.com)
  • Some chromosomal abnormalities albeit recurrent are rare such as tetrasomy 8 or isochromosome 5p. (biomedcentral.com)
  • In addition, erratic chromosomal rearrangements may occur in AML, sometimes unbalanced and also accompanied by other abnormalities. (biomedcentral.com)
  • This case of acute monoblastic leukemia presents a combination of rare chromosomal abnormalities including the unbalanced translocation der(19)t(17;19)(q23;p13.3), hitherto un-reported in AML. (biomedcentral.com)
  • Reporting and collecting data of rare chromosomal abnormalities will add information to AML disease, progression and prognosis, and may eventually translate to improved patient management. (biomedcentral.com)
  • A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. (wikipedia.org)
  • A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are generally organized in pairs, ordered by size and position of centromere for chromosomes of the same size. (wikipedia.org)
  • Karyotypes describe the chromosome count of an organism and what these chromosomes look like under a light microscope. (wikipedia.org)
  • Six different characteristics of karyotypes are usually observed and compared: Differences in absolute sizes of chromosomes. (wikipedia.org)
  • A full account of a karyotype may therefore include the number, type, shape and banding of the chromosomes, as well as other cytogenetic information. (wikipedia.org)
  • L'hybridation fluorescente in situ (FISH) est une technique qui permet des séquences d'ADN spécifiques à détecter sur les chromosomes en métaphase ou en interphase en 1 noyaux des cellules. (jove.com)
  • En règle générale, un test FISH unique examine seulement un ou quelques chromosomes entiersou des loci spécifiques par diapositive, etc hybridations multiples doivent être menées sur plusieurs diapositives pour couvrir l'ensemble des chromosomes humains. (jove.com)
  • En outre, les changements numériques (aneuploïdie) dans les chromosomes peuvent être détectés simultanément. (jove.com)
  • After photographing chromosomes under a microscope, researchers literally cut them up, like paper dolls, and arranged them according to size, thereby producing a karyotype. (laskerfoundation.org)
  • Using yet newer techniques for detecting abnormal chromosomes (called spectral karyotyping), Rowley found a chromosomal rearrangement that characterizes one of the childhood leukemias, and her work continues. (laskerfoundation.org)
  • Karyotyping human chromosomes by combinatorial multi-fluor FISH. (wikidata.org)
  • The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)
  • Combinatorial chromosome painting techniques such as multiplex fluorescence in situ hybridization (mFISH) or Spectral Karyotyping (SKY) follow basic fluorescence in situ hybridization (FISH) procedures but use combinations of fluorochromes to label probes to specific chromosomes in such a way that each chromosome is painted with a unique signal. (utmb.edu)
  • Karyotype: The full set of chromosomes in a person's cells. (msdmanuals.com)
  • A karyotype analysis involves blocking cells in mitosis during metaphase and staining the condensed chromosomes. (msdmanuals.com)
  • Chromosomes from single cells are photographed, and their images are arranged, forming a karyotype. (msdmanuals.com)
  • The chromosomes are less condensed than in routine metaphase analysis, and the number of identifiable bands is expanded, allowing a more sensitive karyotype analysis. (msdmanuals.com)
  • Spectral karyotyping makes it feasible to diagnose a variety of diseases, because of its technology in painting each of the 24 human chromosomes with different colors. (future-solutions.co.uk)
  • The hybrids were diploids with 48 chromosomes and had the same karyotype formula as their parents. (biomedcentral.com)
  • Cancer is a disease of the chromosomes, and chromosomal instability in cancer disrupts gene function by either inactivating tumor suppressor genes or activating growth-promoting oncogenes. (nshealth.ca)
  • The chromosomal basis for these aberrations is either translocations, which change the integrity of genes, or abnormal numbers of chromosomes, a condition referred to as aneuploidy, which results in abnormal gene expression levels. (nshealth.ca)
  • A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. (lookformedical.com)
  • A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. (uams.edu)
  • [ 1 ] They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. (medscape.com)
  • Such signals are captured with image analysis systems allowing the construction of karyotypes with each chromosome unambiguously identified. (utmb.edu)
  • These systems allow chromosomal analysis in great detail and are particularly useful for the detection of complex chromosome exchanges that originate from three or more breaks. (utmb.edu)
  • This chapter will describe methods that can be used to analyze the results obtained in mFISH karyotypes particularly with relation to complex chromosome exchanges. (utmb.edu)
  • Aneuploidy: The most common chromosomal abnormality caused by an extra or missing chromosome. (msdmanuals.com)
  • Spectral karyotyping analysis (also called chromosome painting) uses chromosome-specific multicolor fluorescent in situ hybridization (FISH) techniques that improve the visibility of certain defects, including translocations and inversions. (msdmanuals.com)
  • GenASIs HiSKY performs Hyperspectral Karyotyping analysis, leveraging the benefits of multiplexed spectral imaging to obtain a karyotype which uniquely colors each chromosome and provides a level of detailed analysis not available with any other karyotyping technique. (dssimage.com)
  • Spectral karyotyping is a novel technique for chromosome analysis that has been developed based on the approach of the fluorescence in situ hybridization technique. (future-solutions.co.uk)
  • Multicolor banding, chromosomal microarray analysis, chromosome microdissection with reverse painting, and single-copy sequencing of the rearranged chromosome were performed to determine the length and position of the inverted region as well as to rule out a genetic imbalance at the breakpoints. (metasystems-probes.com)
  • karyotype is actually our ancestors, with all the produced condition caused by a new combination fusion (DSP7 + DSP19) and the Y/autosome translocation giving increase on the multiple intercourse chromosome method. (torkinibinhibitor.com)
  • DNA Repair and Chromosomal Translocations -- CINcere modelling: What have mouse models for chromosome instability taught us? (nshealth.ca)
  • Telomere Dysfunction, Chromosomal Instability and Cancer -- Genetic Instability and Disease Prognostication -- Causes of Chromosomal Instability -- Patterns of Chromosomal Aberrations in Solid Tumors -- Yeast as Models of Mitotic Fidelity -- The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development. (nshealth.ca)
  • such as to study chromosomal aberrations, cellular function, taxonomic relationships, medicine and to gather information about past evolutionary events (karyosystematics). (wikipedia.org)
  • The karyotype demonstrated tumor cell patterns with aneuploidy and complex chromosomal aberrations. (biomedcentral.com)
  • Pathak R, Koturbash I, Hauer-Jensen M. Detection of Inter-chromosomal Stable Aberrations by Multiple Fluorescence In Situ Hybridization (mFISH) and Spectral Karyotyping (SKY) in Irradiated Mice. (uams.edu)
  • As such, analyses of specific tumor types have proven invaluable in the identification of new tumor-specific chromosomal aberrations and imbalances (aneuploidy), as well as regions containing tumor-specific gene targets. (elsevierpure.com)
  • We found significant increases in the MN frequency and induced chromosomal aberrations in the lymphocytes of only one donor after ethyl-paraben exposure in the presence of S9 after a short exposure. (metasystems-probes.com)
  • Such structural or numerical chromosomal aberrations are specific for distinct tumor entities. (nshealth.ca)
  • Fluorescence in situ hybridization, spectral karyotyping, multiplex fluorescence in situ hybridization, comparative genomic hybridization, and more recently array comparative genomic hybridization, represent advancements in the field of molecular cytogenetics. (elsevierpure.com)
  • Automated Scanning Cytogenetics Imaging Suite is a software suite designed for cytogenetic analysis, specifically digital karyotyping and fluorescence in situ hybridization (FISH) analysis. (dssimage.com)
  • Bone marrow cells were examined by conventional karyotyping, fluorescence in situ hybridization (FISH) and mutation analysis at diagnosis and follow-up. (biomedcentral.com)
  • FISH probes are used for the detection of larger deletion, duplication and translocation which can not be assessed by conventional karyotyping. (geneticeducation.co.in)
  • G-banded karyotype showing deletion of 4p, derived from the mother, with balanced translocation (4p;8p). (medscape.com)
  • A New Complex Karyotype Involving a KMT2A-r Variant Three-Way Translocation in a Rare Clinical Presentation of a Pediatric Patient with Acute Myeloid Leukemia. (cancerindex.org)
  • Molecular mechanism of MAP9 was determined using spectral karyotyping, microtubule assays, and whole-genome sequencing (WGS). (uky.edu)
  • The application of these techniques for the analysis of specimens from humans, or mouse models of human diseases, enables one to reliably identify and characterize complex chromosomal rearrangements resulting in alterations of the genome. (elsevierpure.com)
  • To cover the whole genome, genome wide screening for chromosomal imbalances using microsatellite markers has been reported, 17, 18 as well as metaphase CGH. (bmj.com)
  • Purpose: Chromosomal instability (CIN) is a common phenomenon in colorectal cancer, but its role and underlying cause remain unknown. (uky.edu)
  • Misregulation of genes that govern the mitotic phase often lead to chromosomal instability (CIN). (healthyguide.info)
  • Chromosomal instability. (lookformedical.com)
  • This issue of Recent Results in Cancer Research presents a comprehensive review of current understanding of chromosomal instability in cancer and of strategies to use this information for better treatment of patients with cancer. (nshealth.ca)
  • The degree of chromosomal instability and the degree of intratumor heterogeneity have profound consequences for disease outcome and for therapeutic stratification. (nshealth.ca)
  • Karyotyping generally combines light microscopy and photography in the metaphase of the cell cycle, and results in a photomicrographic (or simply micrographic) karyogram. (wikipedia.org)
  • In metaphase where the karyotype is typically studied, all DNA is condensed, but most of the time, DNA with a high GC content is usually less condensed, that is, it tends to appear as euchromatin rather than heterochromatin. (wikipedia.org)
  • Many of the major sarcomas have been found to have characteristic tumor-specific chromosomal translocations that are currently used in the diagnosis of these tumors. (johnshopkins.edu)
  • New technologies such as spectral karyotyping will likely increase our ability to identify additional tumor-specific translocations. (johnshopkins.edu)
  • Screening for chromosomal imbalances by array CGH, whether using cDNA 23 or BAC clones, 24 has mainly been performed on cancer samples, 25- 30 which usually contain large gene dose alterations. (bmj.com)
  • A test target is what the test interrogates ( e. g. the analyte, chromosomal region/mitochondrion, gene or protein). (nih.gov)
  • However, for patients with a KMT2A rearrangement (KMT2A-r), the prognosis appears to depend on the fusion partner gene rather than the karyotype structure. (cancerindex.org)
  • ALT is a recombination-based mechanism where one telomere uses other chromosomal, or extrachromosomal, telomeric DNA sequences as a template for telomere elongation. (oncotarget.com)
  • While special types of probes for larger chromosomal alteration are a few thousand nucleotides long. (geneticeducation.co.in)
  • The preparation and study of karyotypes is part of cytogenetics. (wikipedia.org)
  • GenASIs Bandview is a software module for karyotyping diagnostics, offering cytogenetic labs with accurate, repeatable and standardized analysis. (dssimage.com)
  • Common genetic testing techniques that we use routinely in our lab are FISH, karyotyping, PCR, DNA microarray , DNA sequencing and restriction digestion. (geneticeducation.co.in)
  • Patients with childhood acute myeloid leukemia (AML) with complex karyotypes (CKs) have a dismal outcome. (cancerindex.org)
  • In recent years, it has become possible to adopt the usage of spectral karyotyping for research in general clinical practice, and its usability has attracted particular attention in the diagnosis of different diseases. (future-solutions.co.uk)
  • In this review, we will explain the principle of the spectral karyotyping, as well as its specificity and limitation in detecting the genetic defects within clinical application this by presenting two case reports. (future-solutions.co.uk)
  • The described species, Deltamys kempi (DKE), has a standard karyotype using a diploid quantity of 2n = 37 of males and also 2n Is equal to 38 in ladies, a fundamental range FN Equals Thirty eight for sexes, with an By(A single)By(One particular)A(2)Times(Only two)/X(One)A(Only two)Ful making love willpower program. (torkinibinhibitor.com)
  • DSS support multiple applications and workflows for Cytogenetic laboratories with the help of Applied Spectral Imaging. (dssimage.com)
  • It is a non-invasive, non-destructive technique that enables researchers to extract quantitative, spectral, and morphological information from cells and tissues. (dssimage.com)
  • Gulf War Syndrome Research Opens Up New Ground - A Discovery Channel project finding that five Gulf War Vets exhibited rates of chromosomal damage similar to those found in people with birth defects and cancer prompted the DOD to fund a $900,000 study. (future-solutions.co.uk)
  • Requests for additional chromosomal staining techniques not specifically listed above can usually be accommodated. (mskcc.org)
  • Karyotype and ultrastructure of a colony stimulating factor (CSF) producing cell line (5637) originated from a carcinoma of the human urinary bladder. (wikidata.org)
  • The study of karyotypes is made possible by staining. (wikipedia.org)