Structural fragments chromosome aberrations. Medical search. Frequent questions

A chromosomal instability assay should measure not only whole chromosome change rates, but also the partial chromosomal changes such as deletions, insertions, inversion and amplifications to also take into account segmental aneuploidies. (wikipedia.org)
The rearrangement of parts of chromosomes (translocations) and amplifications or deletions within a chromosome may also occur in structural CIN. (wikipedia.org)
Deletions can be very large, encompassing many genes and megabases of DNA, to the point of producing a visible cytological abnormality in a chromosome. (findmice.org)
Genome analysis revealed several amplifications and deletions within the chromosomes of each iPS type. (biomedcentral.com)

3.3 Concept of Human Genome : nuclear genome, mitochondrial genome, Chromosome and chromosomal aberrations in man (Numerical and structural aberrations, point mutation), Satellite DNA. (souravsirclasses.com)
Structural mutations, which are large parts of the genome that are missing or duplicated, are detected using karyotyping, fluorescent in situ hybridization (FISH) or comparative genomic hybridization (CGH). (identifai-genetics.com)
The most notable example is NIPT for trisomy 21 (where the genome of the fetus contains an extra copy of chromosome 21), which causes Down syndrome, a test that has shown high sensitivity and specificity not only in high-risk populations like advanced maternal age pregnancies, but also in the general population [7]. (identifai-genetics.com)
And structural variation hotspots in the human genome are formed by single processes at each hotspot, that is the underlying sequence drives the kind of SV seen in a hotspot. (blogspot.com)
A kind of mutation in which there is a change to the normal arrangement of the genome into chromosomes. (findmice.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)
Such structures are a result of chromosome fragments or entire acentric chromosomes which are lost during a cell division. (bvsalud.org)

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)
In mammalian spermatozoa, actin represents the most abundant cytoskeletal protein localized in sperm head which actively participates in several structural and biochemical functions such as: i) head shaping occurring during spermiogenesis, ii) sperm capacitation and iii) acrosome reaction (AR) [ 1 - 4 ]. (ijbs.com)

Chromosomal instability (CIN) is a type of genomic instability in which chromosomes are unstable, such that either whole chromosomes or parts of chromosomes are duplicated or deleted. (wikipedia.org)
Structural CIN is different in that rather than whole chromosomes, fragments of chromosomes may be duplicated or deleted. (wikipedia.org)
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)

This includes both karyotyping of banded chromosomes and, since the nineties of the last century, also fluorescence in situ hybridization (FISH). (biomedcentral.com)

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)
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)
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)
Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)

The reason non-reciprocal translocations are dangerous is the possibility of producing a dicentric chromosome - a chromosome with two centromeres. (wikipedia.org)
HMGA2 is located in an area on chromosome 12q13 frequently involved in translocations and amplifications in benign, mesenchymal tumors. (annexpublishers.co)

4, 5 However, a significant portion of genetic aberrations predisposing to these cancers, especially in relatively small risk families, still remains unexplained. (bmj.com)

Chromosome aberrations can affect one or more genes in a complex manner, such as by changing the regulation of gene expression, by disrupting exons, and by creating fusion genes. (biomedcentral.com)
A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes-ROCK1 and USP14-that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. (schleiden-eifel.de)
Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)
A structural unit within a eukaryotic nucleus that carries genes. (findmice.org)
Duplications can lead to an increase in the number of genes carried on a chromosome and may or may not be cytologically visible. (findmice.org)
Identification of regions with copy number aberrations and the genes involved thus offers a basis for better understanding of cancer development [ 6 ]. (biomedcentral.com)

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)
The test item did not induce gene mutations or chromosomal aberrations in the V79 Chinese hamster cell line nor gene mutations in S. typhimurium bacterial cells in the presence and absence of metabolic activation. (europa.eu)

In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)

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)
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)

3.2 Biological basis of inheritance: DNA structure and replication, Restriction Fragment Length Polymorphism (RFLP), Variable Number of Tandem Repeat(s) (VNTRs), Short Tandem Repeat(s) (STRs) protein synthesis, gene, allele, cell division. (souravsirclasses.com)
It was also recently shown that PARP-1 is a sensor of unligated Okazaki fragments during DNA replication 16 and cells deficient in ribonucleotide excision repair are sensitized to PARP inhibition 17 . (nature.com)
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. (lookformedical.com)
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. (lookformedical.com)

Distinction between structural and numerical chromosome aberrations requires combination with other techniques (e.g. (re-place.be)
A chromosomal rearrangement or a numerical chromosomal aberration. (findmice.org)

The unequal distribution of DNA to daughter cells upon mitosis results in a failure to maintain euploidy (the correct number of chromosomes) leading to aneuploidy (incorrect number of chromosomes). (wikipedia.org)
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)

When dicentric chromosomes form, a series of events can occur called a breakage-fusion-bridge cycle: Spindle fibers attach onto both centromeres in different locations on the chromosome, thereby tearing the chromatid into two pieces during anaphase. (wikipedia.org)
or other CHROMOSOME BREAKAGE related aberrations. (lookformedical.com)
Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. (lookformedical.com)
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)

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)
Structural mutations can be at the level of a complete chromosome (e.g. (identifai-genetics.com)
The first tumours they sequenced had mutational phenotypes that went against a gradual model of tumour evolution, no mutations on some chromosomes but massively instable (chromothriptic) chromosome 15. (blogspot.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)
This revealed no aberration of the chromosomal region containing the HMGA2 gene in the cohort, and HMGA2 expression was surprisingly only detectable in a single case. (annexpublishers.co)
They described two patients with PNH with an acquired rearrangement of chromosome 12 affecting the HMGA2 gene, which encodes a chromatin remodeling protein, in the PIGA mutant cells [ 12 ]. (annexpublishers.co)
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)

If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)
In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). (lookformedical.com)

examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)

The karyotype demonstrated tumor cell patterns with aneuploidy and complex chromosomal aberrations. (biomedcentral.com)

BACKGROUND Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with a hemizygous deletion of chromosome 17, band p11.2. (bmj.com)
This deletion is molecularly defined by the identification of a patient specific junction fragment by Southern analysis following pulsed field gel electrophoresis (PFGE). (bmj.com)

The mitochondrial haplogroup (L3e2b1a1) is indicative of maternal ancestors' arrival to the Indian subcontinent about 70 000 y ago, while the Y-chromosome haplogroup (J) is suggestive of the arrival of paternal ancestors less than 25 000 y ago. (ijpsonline.com)
Particularly, Y-chromosome and mitochondrial haplogroups have helped to develop a high resolution human migration map during the past 100 000 y. (ijpsonline.com)
and through the analysis of mitochondrial and Y-chromosome haplogroups decipher the migratory routes as well as the time for the ancestors of this individual to reach India. (ijpsonline.com)

Some structural variants are difficult to analyse, e.g. balanced polymorphic inversions with no copy number change. (blogspot.com)

It includes a small number of papers dealing with the detailed mechanism of the action of LSD on the deoxyribonucleic acid (DNA), the most important constituent of the chromosomes. (druglibrary.net)

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)
Structural genomic variations (SVs) are generally regarded as genetic changes with a size larger than 50 bp [ 1 ]. (biomedcentral.com)
Jan Korbel , Mechanisms of genomic structural variation in germline and cancer. (blogspot.com)
His lab is both experimental and computational and is focused on understanding heritable genomic structural variants (SVs) in cancer. (blogspot.com)

Fluorescence and Giemsa banding studies of the allocyclic X chromosome in embryonic and adult mouse cells. (wikidata.org)

This is because the fitness cost (survival to next generation) of chromosomal instability is lower in polyploid cells, as the cell has a greater number of chromosomes to make up for the chromosomal instability it experiences. (wikipedia.org)

A loss in the repair systems for DNA double-stranded breaks and eroded telomeres can allow chromosomal rearrangements that generate loss, amplification and/or exchange of chromosome segments. (wikipedia.org)
Colocalisation of BARD1 with BRCA1 and RAD51 in response to DNA damage indicates a role in DNA repair, 19, 20 which is supported by the recent observation of BARD1 participation along with BRCA1 in homology directed repair of chromosome breaks. (bmj.com)
A type of chromosomal aberration involving DNA BREAKS. (lookformedical.com)

Normal cells make errors in chromosome segregation in 1% of cell divisions, whereas cells with CIN make these errors approximately 20% of cell divisions. (wikipedia.org)

These are some of the most common cytogenetically visible rearrangements in humans - for example , the pericentric inversion of chromosome 9 is found in over. (schleiden-eifel.de)

A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species. (lookformedical.com)

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 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)
After creating in silico models of these fragments, their evaluation using molecular dynamics was performed. (bvsalud.org)
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)

In other words, the daughter cells do not have the same number of chromosomes as the cell they originated from. (wikipedia.org)
As chromosome instability refers to the rate that chromosomes or large portions of chromosomes are changed, there should be comparisons between cells, or cell populations rather than looking at cells individually in order to determine chromosome instability. (wikipedia.org)
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)
NIPT is based on the presence of DNA fragments that circulate in our blood plasma, outside of blood cells, named cell-free DNA (cfDNA). (identifai-genetics.com)
To overcome the limitations brought upon by cellular fixation, membrane-permeant DNA fluorophores were designed to stain DNA stoichiometrically in live-cells (supravital staining), enabling both the quantification of DNA content and the ability to track the movement of chromosomes over time. (biomedcentral.com)
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)
The frequency of ICF cells with chromosomal aberrations seems to increase with passage number, 3,4,40 although this is not a consistent finding. (schleiden-eifel.de)
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)

All the other chromosomes are still arranged in pairs of two, but. (schleiden-eifel.de)

Therefore, identification and characterization of the chromosome regions with DNA copy number alteration in Western and Asian countries is important to unravel the mechanism underlying lung tumorigenesis. (biomedcentral.com)

To systematically explore this possibility, we have studied six 50-residue fragments covering the entire rod domain of human vimentin, a model IF protein. (bvsalud.org)

Since human chromosomes contain repetitive DNA sections, broken DNA segments from one chromosome can combine with similar sequences on a non-homologous chromosome. (wikipedia.org)
Chromosome damages are widely used as biomarkers in monitoring human exposure to carcinogenic agents [8, 20, 36]. (bvsalud.org)

Down syndrome), or smaller, sub-chromosomal aberrations (e.g. (identifai-genetics.com)
When they looked at the levels of copy number aberration in [patient sot call chromothripsis they found 5/6 cases which were undiagnosed Li-Fraumein syndrome. (blogspot.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)

A chromosome consists of a long, continuous strand of DNA and associated proteins. (findmice.org)

Chromosomal aberrations and their mechanisms have been studied for many years in livestock. (schleiden-eifel.de)

This provides a more accurate determination of the presence of chromosome instability. (wikipedia.org)
Another chromosome-related clinical application is fetal sex determination, which also enables to rule out X-linked recessive disorders in case of a female fetus. (identifai-genetics.com)

The obtained melting temperatures reveal the relative stabilities of individual fragments, which correlate well with in silico results. (bvsalud.org)

Our study provides an invaluable database revealing common and differential imbalance regions at specific chromosomes among Asian and Caucasian lung cancer patients. (biomedcentral.com)

More specifically, CIN refers to the increase in rate of addition or loss of entire chromosomes or sections of them. (wikipedia.org)
An inbred strain that contains a single entire chromosome from another strain. (findmice.org)

Smaller structural variations occur much more frequently than larger ones. (biomedcentral.com)
Structural variations are the main focus of Dr Korbel's research and he developed the paired-end mapping approaches , read depth , split reads , etc. (blogspot.com)

Birth defects are inborn errors of development, which include any structural or functional anomaly with effects on physical, intellectual, and social wellbeing [1]. (identifai-genetics.com)
these include facial coarsening, hepatomegaly, excretion of urinary GAG fragments, and leukocyte inclusion bodies. (medscape.com)

Large differences were seen across the six fragments with respect to their structural variability during a 100 ns simulation. (bvsalud.org)

Anatomy67

Organisms6

Diseases33

Chemicals and Drugs37

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Phenomena and Processes145

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture1

Information Science4

Health Care9

Geographicals3

Deletions4

Genome5

Result of chromosome2

Mammalian2

Whole chromosomes3

Fluorescence In Situ Hybri1

Abnormalities5

Translocations2

Genetic aberrations1

Genes6

Induce2

Abnormality1

Vitro2

Replication4

Numerical2

Mitosis2

BREAKAGE4

Mutations3

Gene4

Diploid2

Duplications1

Aneuploidy1

Deletion2

Mitochondrial3

Inversions1

Deoxyribonucleic acid1

Genomic4

Embryonic1

Chromosomal instability1

Breaks3

Segregation1

Inversion1

Somatic1

Inducing structural changes1

Molecular3

Cells8

Pairs1

Characterization1

Possibility1

Human2

Syndrome2

Detection1

Consists1

Mechanisms1

Determination2

Reveal1

Study1

Entire2

Variations2

Include2

Differences1