Hybridization chromosome aberrations. Medical search. Frequent questions

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)
During her training in Japan, Dr. Burdo mastered the FISH (Fluorescence In Situ Hybridization) technique for analyzing chromosome aberrations in mice. (go.jp)
Materials and Methods: To investigate both the presence of numerical abnormalities of chromosome 9 and p16 gene alterations in ovarian cancer, we studied 28 cases by the fluorescence in situ hybridization (FISH) technique using a DNA p16 probe and an a-satellite probe specific for chromosome 9. (iiarjournals.org)
The aim of the present study was to determine the significance of this tumor suppressor gene for ovarian tumorigenesis, investigating both numerical aberrations of chromosome 9 and p16 gene alterations in 28 cases of ovarian tumors, by the fluorescence in situ hybridization (FISH) technique. (iiarjournals.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)
A short introduction how cytogenetics and molecular cytogenetics were established is followed by technical aspects of fluorescence in situ hybridization (FISH). (frontiersin.org)
This review is about "molecular cytogenetics" including 1) the historical perspective of its development from cytogenetics, 2) technical aspects, 3) available probe sets, and 4) variants and applications of the basic fluorescence in situ hybridization (FISH) approach. (frontiersin.org)
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)
Results were validated by fluorescence in situ hybridization (FISH) to both interphase nuclei and metaphase chromosomes using appropriate bacterial artificial chromosome (BAC) probes. (ox.ac.uk)
Chromosome analysis was performed on 47-h cultures using single-color fluorescence in situ hybridization (FISH) to paint chromosomes 1, 3 and 5. (bioone.org)
Translocations were scored in an average of 1039 cell equivalents (CE) per subject using fluorescence in situ hybridization with whole chromosome paints, and expressed per 100 CE. (cdc.gov)
This includes both karyotyping of banded chromosomes and, since the nineties of the last century, also fluorescence in situ hybridization (FISH). (biomedcentral.com)
Fluorescence "in situ" hybridization (FISH) technique enables chromosomes to be tagged with fluorescent dyes to highlight genetic traits. (lu.se)

In the case of low-dose exposure, more than 1,000 cells per mouse must be analyzed to detect chromosomal aberrations. (go.jp)
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)
They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity of chromosomal aberrations in these patients is typically assessed based on criteria such as phenotypic similarity to other patients with the same or overlapping aberration, absence in healthy individuals, de novo occurrence, and protein coding gene content. (biomedcentral.com)
In spite of the clear association between large ( de novo ) CNVs and other SVs (collectively known as chromosomal aberrations) with MCA/MR phenotypes [ 9 ], precise characterization of molecular mechanisms that cause disease in individual patients is often unknown. (biomedcentral.com)
In the following sections we first provide an overview of current methods for diagnostic detection and interpretation of chromosomal aberrations in MCA/MR patients. (biomedcentral.com)
Subsequently, the introduction and relevance of new methods for high-resolution dissection of breakpoints of chromosomal aberrations is discussed. (biomedcentral.com)
Since the early years of radiobiology the cellular effects of ionizing radiation have been studied in the context of induced chromosomal aberrations, and early models of radiation action were largely based upon such studies (Savage 1996). (nationalacademies.org)

We analyzed genetic changes in condylomas (four cases), vulvar intraepithelial neoplasia I-III (VIN I-III, eleven cases), and primary vulvar squamous cell carcinomas (VSCC, ten cases) by high-resolution comparative genomic hybridization (HR-CGH) and flowcytometry. (nih.gov)
For a subset of 29 tumors, comparative genomic hybridization was additionally used to screen for chromosome copy number aberrations. (biomedcentral.com)
Genome-screening methodologies, such as conventional cytogenetics and comparative genomic hybridization (CGH), have been applied in order to identify these changes. (biomedcentral.com)
Comparative genomic hybridization (CGH) is now often recommended to identify a greater number of subtle cytogenetic abnormalities in pervasive developmental disorder (PDD). (medscape.com)
The characterisation of the lymphoma cell line U937, using comparative genomic hybridisation and multi-plex FISH. (wikidata.org)
Comparative genomic hybridization (CGH) has been developed to elucidate genome-wide sequence copy number variation (CNV) between different genomes, such as the differential amplification or deletion of genetic regions between tumor DNA and normal DNA from neighboring unaffected tissue [ 7-10 ]. (idtdna.com)
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. (idtdna.com)
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. (idtdna.com)
Screening for chromosome imbalances was carried out using comparative genomic hybridisation (CGH) in 14 frozen samples of tumour from a series of 13 breast cancer patients with multiploid (n = 11) and hypertetraploid (n = 2) tumours. (bmj.com)
Based on conventional cytogenetic analysis of banded chromosomes, we selected a series of 23 paediatric patients with acute myeloid leukaemia and performed whole genome array comparative genome hybridization (aCGH) using DNA samples derived from the same patients. (ox.ac.uk)
Comparative genomic hybridisation (CGH) was used to screen 76 vestibular schwannomas from 76 patients (66 sporadic and 10 NF2 related) to identify other chromosome regions that may harbour genes involved in the tumorigenesis. (bmj.com)
Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH) - Re-evaluation of chromosome aberration rates in early spontaneous abortions. (medibas.se)
Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas. (ox.ac.uk)
Array comparative genomic hybridization, with a genome-wide resolution of approximately 1 Mb, has been used to investigate copy number changes in 48 colorectal cancer (CRC) cell lines and 37 primary CRCs. (ox.ac.uk)
Comparative genomic hybridization (aCGH) is a powerful diagnostic tool for detecting DNA copy number gains and losses associated with chromosome abnormalities. (enzolifesciences.com)
We performed array-based comparative genomic hybridization (aCGH) and whole exome sequencing (WES) to analyze paired samples from ET and sAML phases. (elsevierpure.com)

Conclusion: Numerical aberrations of chromosome 9 and p16 gene deletion are common findings in ovarian cancer. (iiarjournals.org)
Loss of chromosome 18q was a recurrent finding along with deletion of discrete regions such as chromosome 4q34-q35. (ox.ac.uk)
Analysis of syndromic DNA using an oligonucleotide microarray (Agilent 4 x 180K) demonstrated the characteristic deletion in 15q11.2-q13 (chromosome 15) found in patients with Prader-Willi syndrome. (enzolifesciences.com)
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)

This advanced technique uses two or more fluorescent dyes to stain chromosomes in order to detect abnormalities. (go.jp)
Results: Numerical abnormalities of chromosome 9 were found in all studied cases. (iiarjournals.org)
Leukaemia is often associated with genetic alterations such as translocations, amplifications and deletions, and recurrent chromosome abnormalities are used as markers of diagnostic and prognostic relevance. (ox.ac.uk)
Mosaic) aneuploidies and chromosomal rearrangements are a frequent cause of idiopathic MCA/MR. Starting in 1959 with the identification of trisomy-21 as the genetic basis of Down syndrome [ 10 ], microscopic observation of metaphase chromosomes has for several decades been the method of choice for detecting chromosome abnormalities in MCA/MR patients. (biomedcentral.com)
On the other hand, aCGH showed novel chromosome abnormalities (+2p and del5q) potentially associated with disease progression. (elsevierpure.com)

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)

Genes, Chromosomes and Cancer. (lu.se)

As a result, important data about its genome organization and evolution were obtained, such as the lesser gene density of the large metacentric pair compared with the other metacentric chromosomes, which supports the theory of a sex proto-chromosome pair. (metasystems-international.com)

Karyotyping human chromosomes by combinatorial multi-fluor FISH. (wikidata.org)

Premature chromosome condensation in human resting peripheral blood lymphocytes without mitogen stimulation for chromosome aberration analysis using specific whole chromosome DNA hybridization probes. (uams.edu)

PNA FISH Centromere probes are recommended for tracking chromosome aberrations in the centromere such as trisomy and polysomy. (eurogentec.com)
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. (uams.edu)
This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species. (uams.edu)

For a subset of 29 patients with fresh-frozen tisue, CGH was used to screen for chromosomal copy number aberrations. (biomedcentral.com)
In addition, there are only a small number of recurrent copy number aberrations and rare gene fusions. (springer.com)

Micronuclei may originate from acentric chromosome fragments (i.e. lacking a centromere), or whole chromosomes that are unable to migrate to the poles during the anaphase stage of cell division. (re-place.be)

There is a very high incidence of genetic aberrations, mainly related to chromosomal gains, in this subgroup of aneuploid breast cancer patients, associated with a poor clinical outcome. (bmj.com)

Array-CGH was carried out using a 60-mer oligonucleotide-based microarray platform that allows molecular profiling of genomic aberrations with an overall median probe spatial resolution of 13 Kb (180K) (Agilent Technologies Array-CGH Kits). (labettor.com)
aCGH provides an understanding of genetic disorders, cancers and other genomic aberrations. (enzolifesciences.com)

You can use random sequence oligonucleotides to identify single nucleotide polymorphisms (SNPs) as well as small scale chromosome events, primarily insertions or deletions [ 5,6 ]. (idtdna.com)

To this end, we screen primary tumour material for pathogenetic aberrations using next-generation sequencing technology and we manipulate genes of interest in cancer model systems using the CRISPR/Cas9 gene editing system. (lu.se)
The NF2 gene is a tumour suppressor on chromosome 22. (bmj.com)

Antioxidant intake and chromosome translocation frequency among airline pilots. (cdc.gov)

Consequently, this in vitro method can detect both structural and numerical chromosome aberrations in cells that have undergone cell division during or after exposure to the test chemical. (re-place.be)
Distinction between structural and numerical chromosome aberrations requires combination with other techniques (e.g. (re-place.be)

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)
Five of these lie in the X-chromosome, and a study of their linkage relations was shown to indicate that the sequence of the five loci concerned is the same in both species, and that the percentages of crossing over in comparable regions, while not indentical, is still not very different. (caltech.edu)
A recent paper in this journal by Detlefsen(1) is introduced as follows: "There is a well intrenched concept of recent genetics that hereditary factors or genes may be given fairly definite loci on chromosome maps and that these maps correspond to or represent, roughly perhaps, the actual conditions in the chromosome. (caltech.edu)

The most common change was loss on chromosome 22, which was more frequent in sporadic than in NF2 related tumours. (bmj.com)
Importantly, eight tumours (10%) showed gain of copy number on chromosome 9q34. (bmj.com)
almost all tumours have chromosome changes and some are typical of different types of cancer. (lu.se)

We measured the meiotic recombination rate in two regions of chromosome 5, containing or not an NLR gene cluster. (metasystems-international.com)

Therian female mammalian cells have two X chromosomes, while males have only one, requiring X-chromosome inactivation (XCI) for sex-chromosome dosage compensation. (wikipedia.org)
In eutherians, XCI is the random inactivation of one of the X chromosomes, silencing its expression. (wikipedia.org)
Complete XCR restores the Xi to Xa and erases the epigenetic memory of XCI, meaning that inducing X-inactivation again will randomly select an X chromosome to silence, rather than deterministically silencing the original Xi. (wikipedia.org)
This finding suggested, independently to two groups of investigators, that one of the X chromosomes underwent inactivation. (wikipedia.org)
In 1961, Mary Lyon proposed the random inactivation of one female X chromosome to explain the mottled phenotype of female mice heterozygous for coat color genes. (wikipedia.org)
In mice, Xi reactivation is known to occur in three developmental stages: In the oocyte after fertilization, the paternal X chromosome is reactivated, reversing male meiotic sex chromosome inactivation (MSCI). (wikipedia.org)
The higher incidence of ccRCC in male patients may partially be accounted by mono-allelic inactivation of the chromatin remodelling gene, KDM5C on the X chromosome [ 6 ]. (springer.com)

Imbalances involving large chromosomal regions or entire chromosomes were detected by aCGH in seven of the patients studied. (ox.ac.uk)

Check out relevant papers found by Labettor's AI that are relevant for performing Microarray Comperative genomic hybridization - Human SH-SY5Y using SurePrint G3 Human CGH Microarray Kit, 4x180K from Agilent Technologies. (labettor.com)
In a control cohort of 68 human lymphocytes, telomere length and telomere aberrations were age-dependent and showed high inter-individual variation. (metasystems-probes.com)
Albert Levan, a researcher at Lund University, was the first to establish how many chromosomes there are in the human genome. (lu.se)
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)
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)

Airline pilots are exposed to cosmic IR, an efficient inducer of chromosome aberrations (CA) which have been shown to be associated with increased cancer risk. (cdc.gov)
The image shows chromosomes from a cancer patient. (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)
Felix Mitelman's initiative of mapping all chromosome aberrations in cancer has helped to improve diagnosis, treatment and prognosis for different types of cancer. (lu.se)

Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. (frontiersin.org)
However, a thorough understanding of the molecular mechanisms that lead to MCA/MR as a result of chromosome aberrations is often lacking. (biomedcentral.com)
Finally, we summarize the possible molecular consequences of chromosome aberrations for gene expression and function, and we discuss approaches for identification and unraveling the molecular determinants of congenital disease phenotypes. (biomedcentral.com)

The whole genome was analyzed for unstable aberrations to derive aberration frequencies and determine cell stability. (bioone.org)

These data demonstrate the presence of cells in irrigation specimens with specific genomic lesions of chromosome 9 and DNA content. (johnshopkins.edu)
X chromosome reactivation (XCR) is the process by which the inactive X chromosome (the Xi) is re-activated in the cells of eutherian female mammals. (wikipedia.org)
The Lyon hypothesis also accounted for the findings that one copy of the X chromosome in female cells was highly condensed, and that mice with only one copy of the X chromosome developed as infertile females. (wikipedia.org)
This suggested to Ernest Beutler, studying heterozygous females for glucose-6-phosphate dehydrogenase (G6PD) deficiency, that there were two red cell populations of erythrocytes in such heterozygotes: deficient cells and normal cells, depending on whether the inactivated X chromosome (in the nucleus of the red cell's precursor cell) contains the normal or defective G6PD allele. (wikipedia.org)
The main part deals with examples of modern FISH-applications, highlighting unique possibilities of the approach, like the possibility to study individual cells and even individual chromosomes. (frontiersin.org)
A more detailed analysis revealed that the majority of aberrations scored as dicentrics were part of complex/multiple aberrations, with the proportion of cells containing complexes increasing with dose. (bioone.org)
Cells containing aberrations involving painted chromosomes (FISH aberrations) were further classified according to cell stability and complexity. (bioone.org)
The majority of cells with FISH aberrations were unstable. (bioone.org)
The proportion of aberrant FISH cells with complex/multiple aberrations ranged from 56% at 10 mGy to 89% at 500 mGy. (bioone.org)

Chromosome 9 copy number was determined on a cellular basis by FISH, and cellular DNA content was determined by Feulgen DNA staining and image cytometry. (johnshopkins.edu)
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)
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)
Combining FISH on chromosome 9 and DNA cytometry provides an in sensitivity to transitional cell carcinoma over either test alone. (johnshopkins.edu)
Mouse chromosomes stained using the FISH technique, viewed with a fluorescence microscope. (go.jp)
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)

The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing. (metasystems-probes.com)
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)

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)

The salivary gland chromosome technique has made it possible to demonstrate not only that these are inverted sections, but also that there are many different inversions present in wild populations inhabiting different geographical regions. (caltech.edu)
It seems probable that the scheme outlined in this paper will apply for the case of inversions that do not include the locus of the spindle attachment and for other chromosome aberrations in which crossing-over gives rise to chromatids with two spindle attachments, and where the conditions of meiosis are such that (a) the meiotic spindles are oriented so that the reduced nuclei lie approximately on a single straight line, and (b) only one of the terminal nuclei functions in further development. (caltech.edu)

Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure. (cdc.gov)

Chromosome Painting" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uams.edu)

He suggested to introduce the term chromosomics being equal to cytogenomics to bring the three-dimensional morphologically of chromosomes into the focus of research, as this is essential for gene regulation. (frontiersin.org)

A total of 93 BAC clones were used to localize the chromosome complement of the species and 588 genes were annotated, thus almost reaching the 2.5% of the genome sequences. (metasystems-international.com)
In addition, chromosomes with a high number of linked genes that are conserved, even in distant species, were detected. (metasystems-international.com)
This kind of result widens the knowledge of this species' chromosome dynamics and evolution. (metasystems-international.com)

POISSON OctoChrome est une technique prometteuse pour le diagnostic clinique de la leucémie et le lymphome et pour la détection d'aneuploïdies dans tous les chromosomes. (jove.com)

The uncharged backbone enables rapid hybridization and improved stability compared to their DNA/RNA counterparts. (eurogentec.com)

j) Annexes A to F containing sample instructions for the customer, sample questionnaire, sample datasheet for recording aberrations, sample of report and fitting of the low dose-response curve by the method of maximum likelihood and calculating the uncertainty of dose estimate. (iso.org)

One hypothesis was that the chromosomes were inactive until one was activated. (wikipedia.org)
The other, favored hypothesis that was eventually validated was that both maternal and paternal X chromosomes are active until some mechanism inactivates one chromosome. (wikipedia.org)

Since the last-mentioned point involves a new type of effect of the Y-chromosome, it seems desirable to record it, even though the analysis is still unfinished. (caltech.edu)
We aimed to provide a comprehensive analysis of all X chromosome-linked protein-coding genes in 2,354 azoospermic/cryptozoospermic men from four independent cohorts. (cdc.gov)

It is known that in the inner cell mass (the embryo proper) of mice, XCI occurs randomly, while in the extra-embryonic tissues, imprinted XCI deterministically inactivates the paternal X. In early mouse embryos, the paternal X chromosome is already partially silenced at the zygote stage by imprinted XCI, suggesting that sex-chromosome dosage compensation exists from conception. (wikipedia.org)
I intend to use the skills I have acquired to analyze the chromosomes of mice living in the Chornobyl exclusion zone. (go.jp)

Here, we review current methods for breakpoint identification and their impact on the interpretation of chromosome aberrations in patients with MCA/MR. In addition, we discuss opportunities to dissect disease mechanisms based on large-scale genomic technologies and studies in model organisms. (biomedcentral.com)

It has been shown above that crossovers between X chromosome segments inverted with respect to one another influence the orientation of the meiotic tetrads in such a way as to eliminate the single crossover chromatids, leaving a normal non-crossover one in the reduced egg nucleus. (caltech.edu)

segments of these chromosomes have translocated so that part of chromosome 2 is attached to 3, and 3 to 2. (lu.se)

After probe denaturation and pre-annealing with 5-25 µg of Cot-1 DNA, hybridization was performed at 65°C with rotation for 24 hours. (labettor.com)

The next most prevalent aberrations include a cohort of chromatin-modifying genes with diverse roles including PBRM1 , SETD2 , BAP1 , and KMD5C . (springer.com)

Anatomy64

Organisms5

Diseases32

Chemicals and Drugs35

Analytical, Diagnostic and Therapeutic Techniques and Equipment37

Phenomena and Processes144

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Health Care9

Geographicals3

Fluorescence In Situ Hybri13

Chromosomal aberrations7

Comparative16

Deletion4

Abnormalities5

Humans2

Genes Chromosomes and Cancer1

Pair1

Karyotyping1

Peripheral blood lymph1

Probes3

Copy number aberrations2

Centromere1

Genetic aberrations1

Genomic aberrations2

Deletions1

Tumour2

Translocation1

Numerical2

Loci3

Tumours3

Regions of chromosome1

Inactivation7

ACGH1

Human5

Cancer4

Molecular3

Whole genome1

Cells9

FISH6

Sequencing2

Tumor Suppr1

Inversions2

Infertile1

MeSH1

Cytogenomics1

Species3

Diagnostic1

Enables1

Dose1

Hypothesis2

Analysis2

Mice2

Methods1

Meiotic1

Segments1

Probe1

Cohort1