Human chromosome aberrations. Medical search. Frequent questions

The Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer also contains information on the molecular genetic and clinical consequences of cancer-associated chromosome aberrations. (wikipedia.org)

however, chromosome aberrations were observed in vitro with human lymphocytes. (regrowth.com)

The authors conclude that amosite and glass fibers induce chromosome aberrations in human pleural mesothelial cells. (cdc.gov)
It has been shown that fluoride ion has potential to induce chromosome aberrations in cultured human and animal cells at doses much higher than those to which humans are exposed. (drugs.com)
The potential of the test substance, manganese dichloride, to induce structural chromosomal aberrations in human lymphocyte cells in vitro was investigated in a study which was conducted under GLP conditions and in accordance with the standardised guideline OECD 473. (europa.eu)
The test substance did not induce any toxicologically significant increases in the frequency of cells with aberrations in either of the 4(20)-hour exposure groups, in the absence or presence of a liver enzyme metabolising system, or following 24 hours continuous exposure. (europa.eu)
In addition the substance did not induce chromosome aberrations in a chromosome aberration study wit and without metabolic activation. (europa.eu)

Cultures were examined for chromosomal aberrations and aneuploidy 24 hours after treatment. (cdc.gov)
High hyperdiploid acute lymphoblastic leukemia (HeH ALL), one of the most common childhood malignancies, is driven by nonrandom aneuploidy (abnormal chromosome numbers) mainly comprising chromosomal gains. (lu.se)
Here, we show that low concentrations of the estrogenic GPER1 ligands, 17ß-estradiol, bisphenol A, and diethylstilbestrol cause the generation of lagging chromosomes in normal colon and CRC cell lines, which manifest in whole chromosomal instability and aneuploidy. (bvsalud.org)
Centrosome defects are hallmarks of human cancers and contribute to ongoing chromosome missegragation and aneuploidy that manifest in genomic instability and tumor progression. (bvsalud.org)

SCE in human lymphocytes has been investigated as an indicator of chemical mutagenesis. (soton.ac.uk)
Before observing SCE's in chemically treated lymphocytes the spontaneous SCE frequency in human lymphocytes was investigated for natural variation eg due to donor age or sex differences. (soton.ac.uk)
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 test substance was therefore considered to be non-clastogenic to human lymphocytes in vitro. (europa.eu)
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)
Translocations in peripheral blood lymphocytes were scored by using fluorescence in situ hybridisation whole-chromosome painting. (cambridge.org)
The cells studied were in most cases human white blood cells (lymphocytes). (druglibrary.net)
The in vitro cytogenetic effects of the 43-kDa molecular mass exocellular glycoproteic component (GP 43) from Paracoccidioides brasiliensis were studied in cultures from human lymphocytes. (uchile.cl)
Tempol protects against radiation-induced chromosome aberrations in human peripheral blood lymphocytes. (tempol.info)

During the study duplicate cultures of human lymphocyte cells, treated with test substance, were evaluated for chromosome aberrations over at least three dose levels. (europa.eu)
Calcipotriene did not elicit any mutagenic effects in an Ames mutagenicity assay, a mouse lymphoma TK locus assay, a human lymphocyte chromosome aberration assay, or in a micronucleus assay conducted in mice. (globalrph.com)

A rearrangement (translocation) of genetic material between chromosomes 9 and 22 causes a type of cancer of blood-forming cells called chronic myeloid leukemia. (medlineplus.gov)
The translocation involved in this condition, written as t(9;22), fuses part of the ABL1 gene from chromosome 9 with part of the BCR gene from chromosome 22, creating an abnormal fusion gene called BCR-ABL1 . (medlineplus.gov)
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 image shows chromosomes from a cancer patient, showing 2:3 translocation. (lu.se)

He was awarded the Jubilee Prize of the Swedish Medical Association in 1989, the Nordic Fernström prize in 2007, the Söderberg Prize in Medicine in 2008, and the European Society of Human Genetics Award in 2013. (wikipedia.org)
Human Genetics. (wikipedia.org)

He is the founding editor (1989) and editor-in-chief of the scientific journal Genes, Chromosomes & Cancer. (wikipedia.org)
Owing to the severity of these large aberrations that can affect multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have been proposed. (ca.gov)
Our results suggest a fundamentally different function for cellular reprogramming as a means of 'chromosome therapy' to reverse combined loss-of-function across many genes in cells with large-scale aberrations involving ring structures. (ca.gov)
Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
Chromosome 9 likely contains 800 to 900 genes that provide instructions for making proteins. (medlineplus.gov)
People with a 9q22.3 microdeletion are missing two to more than 270 genes on chromosome 9. (medlineplus.gov)
Research shows that several genes that control cell growth and division are located on chromosome 9. (medlineplus.gov)
Enfermedades genéticas que estan ligadas a mutaciones en genes del CROMOSOMA X de los seres humanos (CROMOSOMA X HUMANO) o al CROMOSOMA X de otras especies. (bvsalud.org)
Genes Chromosomes and Cancer. (lu.se)

Here we generated human induced pluripotent stem cells (iPSCs) from patient fibroblasts containing ring chromosomes with large deletions and found that reprogrammed cells lost the abnormal chromosome and duplicated the wild-type homologue through the compensatory uniparental disomy (UPD) mechanism. (ca.gov)
The abnormal chromosome 22, containing a piece of chromosome 9 and the fusion gene, is commonly called the Philadelphia chromosome. (medlineplus.gov)

19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.com)
Albert Levan, a researcher at Lund University, was the first to establish how many chromosomes there are in the human genome. (lu.se)
Structural variation (SV) influences genome organization and contributes to human disease. (biomedcentral.com)
These data provide a foundational map of large SV in the morbid human genome and demonstrate a previously underappreciated abundance and diversity of cxSV that should be considered in genomic studies of human disease. (biomedcentral.com)
In the 1950s, Albert Levan and American Joe Hin Tjio improved the method, and in 1956 they established that the human genome is divided into 46 chromosomes, i.e. 23 pairs of chromosomes. (lu.se)

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)
Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis. (cdc.gov)

Asbestos-Induced Mesothelioma and Chromosomal Abnormalities in Human Mesothelial Cells In Vitro. (cdc.gov)
The induction of chromosomal aberrations in human pleural mesothelial cells by asbestos (1332214) was studied in-vitro. (cdc.gov)
SV40 Transfected Human Anterior Cruciate Ligament Derived Ligamentocytes-Suitable as a Human in Vitro Model for Ligament Reconstruction? (mdpi.com)
The first group includes papers describing structural changes of the chromosomes produced by LSD in vitro , ** in these experiments various concentrations of LSD are added to cultures of cells from human, animal, or plant tissues in a test-tube. (druglibrary.net)

Felix Mitelman began early on to compile these and other chromosome changes. (lu.se)

These data demonstrate the presence of cells in irrigation specimens with specific genomic lesions of chromosome 9 and DNA content. (johnshopkins.edu)
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)
Of note, recent genomic studies demonstrate activating, somatic BRAF mutations in the majority of human specimens. (medscape.com)

Human cells have 23 pairs of chromosomes(22 pairs of autosomes and 1 pair of sex chromosomes)giving total of 46 per cell. (oracleias.org)

In order to assess the neoplastic nature of the lesion, we performed fluorescence in-situ hybridization (FISH) analysis using a probe which maps to the chromosome band 22q11 and 22q13, allowing us to show deletion or loss of one chromosome 22 in the tumour cells. (nih.gov)
Many cases of NMIBC tumors have a chromosome 9 deletion, which typically occurs early in tumor formation. (medlineplus.gov)

Each eukaryotic chromosome contains a linear DNA with two ends. (oracleias.org)
Eukaryotic chromosome contain many origin of replications and the genetic material will only replicate at the S phase of cell cycle. (oracleias.org)
Telomere is present in the tip of eukaryotic chromosome. (oracleias.org)
Eukaryotic chromosome contains centromere kinetochore and chromosomal arms. (oracleias.org)

The karyotypically normal iPSCs with isodisomy for the corrected chromosome outgrew co-existing aneuploid populations, enabling rapid and efficient isolation of patient-derived iPSCs devoid of the original chromosomal aberration. (ca.gov)
Note=A chromosomal aberration involving PDGFRB is found in a form of chronic myelomonocytic leukemia (CMML). (abcam.com)

The generality of induction of Two major issues faced when city in humans is clear, but in other and response to radiation damage studying radiation carcinogenesis is cases the data are few or non-exist- is discussed for all types of ionizing that radiation-induced cancers are ent. (who.int)

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)

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)

Ring chromosomes are structural aberrations commonly associated with birth defects, mental disabilities and growth retardation. (ca.gov)
A number of scientific papers have been published indicating that LSD might cause structural changes in the chromosomes, genetic mutations, disturbances of embryonic development, and malignant degeneration of cells. (druglibrary.net)
22) * After my arrival in the United States, I participated in a major study concentrating on structural changes of the chromosomes in the white blood cells following LSD administration. (druglibrary.net)
The possibility of inducing structural changes in the chromosomes by exogenous agents such as radiation, viruses, and a variety of chemicals, has been a subject of great scientific interest for a long time. (druglibrary.net)
In eukaryotes the genetic material is organized as distinct structural entities called chromosomes. (oracleias.org)

Such structures are a result of chromosome fragments or entire acentric chromosomes which are lost during a cell division. (bvsalud.org)

Mitelman, F: An International System for Human Cytogenetic Nomenclature. (wikipedia.org)

Together with Fredrik Mertens and Bertil Johansson he maintains a database of all published chromosome aberrations in neoplastic disorders, with clinical features, now numbering more than 65,000 cases (as of December 2016). (wikipedia.org)
Chromosome specific micro-arrays have however been used in a few cases to determine the critical regions in microdeletion disorders. (bmj.com)

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)
Fluorescence "in situ" hybridization (FISH) technique enables chromosomes to be tagged with fluorescent dyes to highlight genetic traits. (lu.se)

He has spent over 30 years studying various aspects of the changes to chromosomes that lead a cell to change and develop into a cancer cell, with a particular focus on leukaemia. (lu.se)

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. (bvsalud.org)
The nature of ionizing these effects can vary significant- fects, including DNA damage, chro- radiation ly, depending on the resulting dose mosomal aberrations, mutations, cell distribution or distribution of radionu- transformation, and cell killing (NRC, Ionizing radiation is a term used for clides throughout the body. (who.int)

Homogenates of rat (or human) liver (S9 mix) were added directly to petri plates to evaluate the need for metabolic activation. (europa.eu)

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)

Primary human fibroblasts were treated with 0 to 6.67microg/cm2 amosite for comparison. (cdc.gov)
In human fibroblasts, effective doses for inducing chromosome aberrations were 2.67 and 6.67microg/cm2. (cdc.gov)

[5] In animal cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation . (wikipedia.org)
Some use the term chromosome in a wider sense, to refer to the individualized portions of chromatin in cells, either visible or not under light microscopy. (wikipedia.org)
Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells. (ca.gov)
Human primary pleural mesothelial cells obtained from noncancerous donors by pleural effusion were cultured and treated with 0 to 6.67 micrograms per square centimeter (microg/cm2) amosite (12172735) asbestos. (cdc.gov)
Amosite at 0.14 and 0.27microg/cm2 induced a significant incidence of chromosome aberrations, mostly chromatid breaks and gaps, in mesothelial cells. (cdc.gov)
Altered cells had a modal chromosome number of 45 and lacked the Y- chromosome. (cdc.gov)
Chromosome 9 is made up of about 141 million DNA building blocks (base pairs) and represents approximately 4.5 percent of the total DNA in cells. (medlineplus.gov)

Genetic considerations in human cancer incidence. (cdc.gov)
Thurmon, T F and Robertson, K P "Genetic considerations in human cancer incidence. (cdc.gov)

1986), a human cell micronucleus assay (Budinsky et al. (europa.eu)
2013), a human cell gene mutation assay in the TK locus (Budinsky et al. (europa.eu)
A human cell gene mutation assay in the HPRT locus is also available, although experimental methodology is limited (Budinsky et al. (europa.eu)
The frequencies of chromosome aberrations in both vehicle and positive controls were within the expected range and verified the sensitivity of the assay and the efficacy of the S9-mix. (europa.eu)
Assay of radiation sensitivity from γ H2AX and aberration inPrematureIy condensed chromosomes. (nii.ac.jp)

While IV administration of high-doses of latanoprost in monkeys (i.e., 50-150 times the usual human dose) has been associated with transient increases in airway resistance and blood pressure, latanoprost ophthalmic solution has been used in individuals with bronchial asthma without inducing bronchoconstriction. (regrowth.com)

In passage experiments, amosite and glass fibers induced chromosome aberrations. (cdc.gov)

Otto Bütschli was the first scientist to recognize the structures now known as chromosomes. (wikipedia.org)
Structures like centromere, kinetochore, secondary constriction and chromosomal arms are not formed in prokaryotic chromosomes. (oracleias.org)

Combining FISH on chromosome 9 and DNA cytometry provides an in sensitivity to transitional cell carcinoma over either test alone. (johnshopkins.edu)

The genetic controversy about LSD started in 1967 when Cohen, Marinello and Back (22) published a paper suggesting that LSD should be added to the list of substances capable of causing abnormalities in the chromosomes. (druglibrary.net)

In his famous textbook The Cell in Development and Heredity , Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikipedia.org)

Rings form after fusion of the long and short arms of a chromosome, and are sometimes associated with large terminal deletions. (ca.gov)
Deletions of part or all of chromosome 9 are commonly found in bladder cancer. (medlineplus.gov)

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
Two copies of chromosome 9, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
Affected individuals are missing at least 352,000 base pairs, also written as 352 kilobases (kb), in the q22.3 region of chromosome 9. (medlineplus.gov)

Includes patients co-infected with human immunodeficiency virus (HIV). (medicines.org.uk)
Stavudine is a nucleoside reverse transcriptase inhibitor that is FDA approved for the treatment of human immunodeficiency virus (HIV)-1 infection. (wikidoc.org)
Stavudine capsules, in combination with other antiretroviral agents, are indicated for the treatment of human immunodeficiency virus (HIV)-1 infection. (wikidoc.org)

The tendency toward chromosome fragility is one of the theories that may explain chromosome variation in brocket deer species (genus Mazama). (uchile.cl)

A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)

Chromosomes are normally visible under a light microscope only during the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form). (wikipedia.org)
During cell division, ring chromosomes can exhibit unstable behaviour leading to continuous production of aneuploid progeny with low viability and high cellular death rate. (ca.gov)
9q22.3 microdeletion is a chromosomal change in which a small piece of the long (q) arm of chromosome 9 is deleted in each cell. (medlineplus.gov)
In the second half of the cell cycle the chromosomes clone themselves so that at mitosis, cell division, each cell has a full set of chromosomes. (whale.to)
Always two to many chromosomes per cell. (oracleias.org)
Chromosome occupies freely in the center of the cell and not covered by the nucleus. (oracleias.org)
disruption in the normal chromosomal content of a cell and cause major changes in the genetic condition in human ,such as: down syndrome , klinefelter syndrome etc. (oracleias.org)

Thus where applicable, environmental and human health effects are predicted from adequate and reliable data for source substance(s) within the group by interpolation to the target substances in the group (read-across approach) applying the group concept in accordance with Annex XI, Item 1.5, of Regulation (EC) No 1907/2006. (europa.eu)
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)
in this type of research the effect of LSD is studied after the substance has been ingested by or injected into animals or humans. (druglibrary.net)
An MRL is defined as an estimate of daily human exposure to a substance that is likely to be without an appreciable risk of adverse effects (noncarcinogenic) over a specified duration of exposure. (cdc.gov)

Aided by the rediscovery at the start of the 1900s of Gregor Mendel 's earlier work, Boveri was able to point out the connection between the rules of inheritance and the behaviour of the chromosomes. (wikipedia.org)

3- 16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. (bmj.com)

1986. Carcinogenic effects of radiation on the human skin. (cdc.gov)
No evidence of carcinogenic potential was observed in mice or rats given latanoprost by oral gavage in dosages up to 170 µg/kg daily (approximately 2800 times the recommended maximum human dose) for 20 or 24 months, respectively. (regrowth.com)
In addition to the above-mentioned rely on epidemiological data for which izing radiation should be considered reviews in the IARC Monographs , statistical significance is reached as carcinogenic to humans (Group 1). (who.int)
Chromosome damages are widely used as biomarkers in monitoring human exposure to carcinogenic agents [8, 20, 36]. (bvsalud.org)

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)

Advisory Committee on Human Radiation Experiments. (cdc.gov)
Report on search for human radiation experiment records, 1944-1994 (volume 1). (cdc.gov)

However, to date, data from IR-exposed human populations are not available. (cambridge.org)

Conclusions: The lack of increase with grade in the percentage of positive specimens by FISH supports the hypothesis that chromosome 9 aberrations are critical events in bladder tumorigenesis for many patients. (johnshopkins.edu)

Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.com)
Chromosome analysis was performed on samples from 20 Brazilian patients with breast cancer. (uchile.cl)

Prokaryotic chromosomes code for few proteins. (oracleias.org)

Anatomy67

Organisms5

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Phenomena and Processes154

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