Present chromosome aberrations. Medical search. Frequent questions

A negative result of a chromosomal aberration assay was reported by Ishidate et al. (europa.eu)
Objective: Placental mosaicism for a subset of a chromosome, a structural chromosomal aberration, is thought to be a very rare finding in chorionic villus samples. (aau.dk)
Results: In five of 100 consecutively collected samples (5/100), mosaicism for a structural chromosomal aberration was detected. (aau.dk)
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 change in number of chromosome or change in structure of chromosome is nothing but the chromosomal aberration. (biologyideas.com)
This chromosomal aberration may occurs during cell division. (biologyideas.com)
What are causes of chromosomal aberration? (biologyideas.com)
Down Syndrome (DS) is the most common chromosomal aberration resulting from trisomy of the chromosome 21. (bvsalud.org)
In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
B. This chromosomal aberration tends to manifest in males in the form of absent or delayed puberty, sterility, development of breast, etc. (schleiden-eifel.de)

Outcomes evaluated included sperm parameters, DNA damage and numerical chromosome aberrations (aneuploidy (disomy, nullisomy) or diploidy). (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)
Aneuploidy is a condition in which there is the addition or deletion of one or more chromosomes in a diploid set of chromosomes. (biologyideas.com)
Aneuploidy may be hypoploidy (loss of one chromosome from a genome) or hyperdiploid (one or more chromosomes extra in a set of chromosomes). (biologyideas.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)

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)
Results: Numerical abnormalities of chromosome 9 were found in all studied cases. (iiarjournals.org)
Conclusion: Numerical aberrations of chromosome 9 and p16 gene deletion are common findings in ovarian cancer. (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)
The change in the number of chromosomes is called chromosomal numerical aberration . (biologyideas.com)
Conversely, only few such methods are currently available to predict potential structural and numerical chromosome aberrations. (sciensano.be)

For a subset of 29 tumors, comparative genomic hybridization was additionally used to screen for chromosome copy number aberrations. (biomedcentral.com)

Therefore, maternally active genes are present in higher than usual concentrations, and maternally inactive products are present at lesser concentrations if at all. (medscape.com)
An estimated 1.5 per cent of the Swedish population have some sort of intellectual disability, caused in most cases by genetic aberrations, anything from small point mutations (one or a few base pairs) in individual genes or a few base-pair repetitions, to larger structural chromosome mutations comprising one or more genes. (technologynetworks.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)
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 1 likely contains 2,000 to 2,100 genes that provide instructions for making proteins. (medlineplus.gov)
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)

When patients present with comorbidities or genetic mutations, and clinical factors are considered, Jacobs said he prefers to use BTK inhibitors because "they're just so effective across the spectrum. (cancernetwork.com)
In the present study, somatic mutations in KIT and PDGFRA were evaluated by direct sequencing analysis in a consecutive series of 80 GIST patients. (biomedcentral.com)
In the present study, the researchers developed their own analytical tool, which, in combination with whole-genome sequencing, discovers point mutations, structural chromosome aberrations and repetitions (expansions). (technologynetworks.com)
These assays can detect mutations in the Tk gene that result from both gene mutations and chromosome damage. (biomedcentral.com)
Here we analyze sequencing data from 151 primary UM samples using a customized bioinformatic pipeline, to improve detection of BAP1 mutations and infer the clonal relationships among genomic aberrations. (nature.com)
Strikingly, we find BAP1 mutations and other canonical genomic aberrations usually arise in an early punctuated burst, followed by neutral evolution extending to the time of clinical detection. (nature.com)
This approach reveals many previously undetected BAP1 and spliceosome mutations, and uncovers strong evidence that the canonical genomic aberrations in UM usually arise in an early, punctuated burst followed by clonal stasis. (nature.com)
Most high-grade cancers harbor mutations in the TP53 gene together with a massive amount of other mutations and chromosome aberrations. (lu.se)
These deletions are somatic mutations, which means they occur during a person's lifetime and are present only in the cells that become cancerous. (medlineplus.gov)

Here, we present clinical and laboratory data on five cases with such mosaicism for structural chromosomal aberrations. (aau.dk)
Conclusion: Chromosomal microarray can detect placental mosaicism for structural chromosomal aberrations. (aau.dk)
These findings highlight the complexity of mosaicism for structural chromosomal aberrations in prenatal samples in the chromosomal microarray era. (aau.dk)
These results strongly suggest that NS is mainly caused by structural aberrations in the nucleus during interphase of the cell cycle. (biomedcentral.com)

It causes due to non-disjunction of chromosomes e.g. in humans, 46 chromosome is a diploid condition. (biologyideas.com)
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)
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)

Most carcinogens that cause NS are genotoxins, which cause DNA damage, chromosomal aberrations (CAs), and micronucleus formation. (biomedcentral.com)
For the present work, in vivo micronucleus test results of 718 structurally diverse compounds were collected and applied for the construction of new models by means of the freely available SARpy in silico model building software. (sciensano.be)

19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.com)

The remaining cases are due translocation, mosaicism and partial trisomy of the chromosome 21. (bvsalud.org)
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)

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 whole package of DNA (genome) and protein (epigenome) in a chromosome is what controls the development and maintenance of eukaryotic organisms (protists, fungi, animals, and plants). (carnivorousplants.org)
The more similar the chromosomes (the genome and epigenome as well as chromosome number) the more likely hybrids will form and reproduce but also the more likely the net result will only be the introgression of genetic material from one species to the other. (carnivorousplants.org)
In this condition, a pair of chromosomes is less in the genome i.e. 2n - 2. (biologyideas.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)

Patients with head and neck cancer who have more genetic material on chromosome 9 in their cancer cells survive three times longer after receiving immunotherapy than those with less genetic material there. (sciencedaily.com)
In spite of our lack of attention to chromosomes and chromosome numbers in formally defining species, it is the chromosomes and the genetic material they contain that define true species and control the evolution of new species. (carnivorousplants.org)
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)
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)
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)

Euploidy is a condition in which an organism possesses one or more full sets of chromosomes. (biologyideas.com)
Triploidy is a condition in which an organism contains Three sets (3n) of chromosomes in the nucleus of the body cell. (biologyideas.com)
Polyploidy is a condition in which an organism contains more than usual two sets (2n) of chromosomes . (biologyideas.com)
what do you call an organism with four sets of chromosomes . (schleiden-eifel.de)

The more common were abnormalities of chromosome 9 (n = 4), 20 (n = 2), 5 (n = 2), and complex abnormalities (n = 2). (elsevierpure.com)
However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)

Genotoxicity was assessed by chromosome aberrations and polyploid cells. (ufpa.br)

All the other chromosomes are still arranged in pairs of two, but. (schleiden-eifel.de)
Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
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)

A 2021 study led by the same research team had shown that the chromosome arm 9p is more likely to be lost in immune cold tumors that do not respond to immunotherapy. (sciencedaily.com)

This trisomy is present in 95% of the phenotypic expression of the DS patients. (bvsalud.org)

Recent technical leaps in genetic diagnostics have revealed many new genetic aberrations that cause intellectual disability," says Anna Lindstrand, associate professor at the Department of Molecular Medicine and Surgery, Karolinska Institutet, and clinical genetics specialist at Karolinska University Hospital. (technologynetworks.com)

Published online the week of November 14 in the Proceedings of the National Academy of Sciences ( PNA S), the study found that HNSC-HPVneg cancer patients with a greater supply in their cancer cells of a region on chromosome 9 called 9p24.1 live 30 months on average after checkpoint inhibitor treatment, while those with lower amounts of it survive for 11 months on average. (sciencedaily.com)
Among these are changes in chromosome numbers, with some cancer cells containing more chromosomes than normal, and others less. (sciencedaily.com)
The likelihood of copying errors is much greater during the reckless growth driven by fast-dividing cancer cells, say the authors, which explains the "extensive" chromosome copy number changes present in most HPV-negative head and neck squamous-cell carcinomas. (sciencedaily.com)
Twenty-eight cases of patients who had undergone surgical resection of ovarian cancer between the years 2005 to 2009 were included in the present study. (iiarjournals.org)
Cancer is thought to arise through the accumulation of genomic aberrations evolving under Darwinian selection. (nature.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)
Thousands of chromosomal aberrations have been discovered in different types of cancer. (schleiden-eifel.de)
This offers one of the most challenging paradoxes in cancer biology: what is required of a cell to not only survive massive genetic damage but also outcompete neighboring cells and present as a malignant tumor? (lu.se)
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)
almost all tumours have chromosome changes and some are typical of different types of cancer. (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)

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)

UMs are also associated with a small set of recurrent chromosome copy number alterations (CNAs), which tend to occur in the context of a specific GEP class and BSE mutation 12 . (nature.com)

Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.org)
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)
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)
Besides genotyping, a SNP array is also an attractive tool for understanding aberrations in chromosome inheritance. (mpob.gov.my)

This nuclear breakdown is necessary to allow the mitotic spindle to interact with the (condensed) chromosomes and to bind them at their kinetochores. (wikipedia.org)

Testosterone is determined in men when reduced testosterone production is suspected, e.g., in hypogonadism, estrogen therapy, chromosome aberrations (as in the Klinefelter's syndrome) and liver cirrhosis. (cdc.gov)

[4] Before this happens, each chromosome is duplicated ( S phase ), and both copies are joined by a centromere , resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. (wikipedia.org)
This phenomenon occurs during spermatogenesis, resulting in three copies of the chromosome 21. (bvsalud.org)
The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 1. (medlineplus.gov)

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)

It was not until the early 20 th century that it was demonstrated that chromosomes contain the material of hereditary and it took until the middle 20 th century to determine that DNA in chromosomes was the principle coding molecule of heredity. (carnivorousplants.org)

The change may result in either an increase or decrease in the number of chromosomes, that condition is called ploidy. (biologyideas.com)
The ploidy can occur either in the complete set of chromosomes or in the individual chromosomes. (biologyideas.com)
Exploiting this, the present study utilized chromosome-wide SNP allelic distributions to determine the ploidy composition of over 1,000 oil palms from a commercial F1 family, including 197 derived from twin-embryo seeds. (mpob.gov.my)

The objective of the present review was to summarize results to date of studies examining pesticide effects on human sperm. (cdc.gov)

Such copy number changes happen because errors occur as a cell divides into two and splits its chromosomes equally among its daughter cells, which occurs billions of times as a single-celled human embryo multiplies to form a fetus. (sciencedaily.com)

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

Within both normal and cancerous cells, chromosomes are the 23 superstructures that house, organize, and protect the DNA code. (sciencedaily.com)

Translocations in peripheral blood lymphocytes were scored by using fluorescence in situ hybridisation whole-chromosome painting. (cambridge.org)
Fluorescence "in situ" hybridization (FISH) technique enables chromosomes to be tagged with fluorescent dyes to highlight genetic traits. (lu.se)

Antibodies only work if there are enough immune cells present to notice them, a state called "immune hot," with the field understanding little about why so many patients have too few immune cells near their immune cold tumors. (sciencedaily.com)
Benzyl alcohol induced significant increase in chromosomal aberrations in CHO cells in the presence, but not in the absence of S9 (NTP TR343, 1989/Anderson et al. (europa.eu)
Furthermore, most chromosomal gains are present in all leukemic cells, suggesting that they arose early during leukemogenesis. (lu.se)
Chromosomes got their name by early cell biologists when they observed certain dark-staining objects in dividing cells. (carnivorousplants.org)
In human dividing cells 46 chromosomes can be observed. (carnivorousplants.org)
[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)
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)
Sequencing of DNA gives a direct picture of our genetic make-up, while sequencing of the RNA that is naturally present in cells gives a picture of which parts of our non-coding DNA are used and in what way. (lu.se)

When a prognostic work-up is conducted, and patients have a chromosome 17 aberration, they typically respond well to indefinite BTK inhibition, he added. (cancernetwork.com)

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)
No evidence of a genotoxic effect was detected in the Ames Salmonella, chromosome aberration, mouse lymphoma, or sister-chromatid exchange tests (McGregor et al. (europa.eu)

31, 32 In this report we used a cDNA micro-array and two BAC clone micro-arrays on 10 previously identified cases containing 16 cryptic chromosome aberrations, to test their performance for the detection of small imbalances. (bmj.com)

The present study demonstrated that the implementation of video footages and group discussions to WHO/Good Prescribing Method improved the fourth-year medical students' performance in rational pharmacotherapy skills. (ijp-online.com)
We utilized Stata 12.0 software to perform the meta-analysis in the present study. (biomedcentral.com)
During metaphase the X-shaped structure is called a metaphase chromosome, which is highly condensed and thus easiest to distinguish and study. (wikipedia.org)
The objective of the present study was to determine the changes induced in vitro by two mercury compounds (HgCl2 and CH3HgCl) in cultured human lymphocytes. (ufpa.br)
The aim of the present study was to apply a clinical score previously designated by de Vries to 329 patients with intellectual disability/developmental disorder (intellectual disability/developmental delay) referred to our tertiary center and to see whether the clinical factors are associated with a positive outcome of aCGH analyses. (nih.gov)

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

However, it remains unclear when the aberrations associated with metastasis emerge during tumor evolution. (nature.com)
Despite success in identifying these canonical genomic aberrations in UM, how and when these events arise during tumor evolution remains unknown. (nature.com)

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)
0.05) in the relative frequency of chromosome aberrations was observed for all concentrations of CH3HgCl when compared to control, whether alone or in an evident sinergistic combination with HgCl2. (ufpa.br)

Each chromosome consists of one very long molecule of DNA twisted around proteins. (carnivorousplants.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)
DS patients also present a T cell immunodeficiency causing functional defects of polymorphonuclear leukocytes, reduced chemotaxis, diminished phagocytic ability, defective oxidative response and abnormal bactericidal activity 3 . (bvsalud.org)
If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)
The chromosome number of this cell is 2n-1 = 45. (schleiden-eifel.de)
1q21.1 microdeletion is a chromosomal change in which a small piece of the long (q) arm of chromosome 1 is deleted in each cell. (medlineplus.gov)

The much more common HPV-negative cancers are instead caused by smoking, alcohol use, and chromosome copy aberrations. (sciencedaily.com)
For a subset of 29 patients with fresh-frozen tisue, CGH was used to screen for chromosomal copy number aberrations. (biomedcentral.com)

In this condition, there is one chromosome less in one homologous pair i.e. 2n - 1 condition. (biologyideas.com)

Telomeres are protective DNA structures that are located at the end of chromosomes, and proper telomere maintenance is indispensable for chromosomal integrity and overall genomic stability. (oncotarget.com)

Otto Bütschli was the first scientist to recognize the structures now known as chromosomes. (wikipedia.org)

The mosaic aberration was subsequently detected in fetal tissue in three of the five cases. (aau.dk)
Chromosome specific micro-arrays have however been used in a few cases to determine the critical regions in microdeletion disorders. (bmj.com)
Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.com)
In other cases, individuals have a shorter or longer duplicated segment within the q21.1 region of chromosome 1. (medlineplus.gov)

Loss of heterozygosity for chromosome 3 (LOH3) is frequently found in BAP1 -mutant class 2 tumors and is thought to represent the "second hit" in the bi-allelic loss of BAP1 , located at chromosome 3p21 9 . (nature.com)

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