Deletions frequency of chromosome aberrations chromosome aberrations. Medical search. Frequent questions

The test substance is considered to cause structural chromosomal aberrations in cultured mammalian cells according to an in vitro OECD 473 chromosomal aberration assay. (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)
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)
How this extremely rare chromosomal aberration contributes to the pathogenesis of myelodysplastic syndrome should be clarified by accumulating clinical data of such cases. (biomedcentral.com)
To the best of our knowledge, inv(7)(q22q36) as a sole chromosomal aberration in a clinical sample of de novo malignancies has never been documented. (biomedcentral.com)
A ring chromosome is an extremely rare chromosomal aberration, which can occur in autosomes and sex chromosomes. (juniperpublishers.com)
A type of chromosomal aberration involving DNA BREAKS. (lookformedical.com)

The presence of inactivating mutations, together with the deletion of the normal copy of the ATM gene in some patients with T-PLL, B-CLL, and MCL, establishes somatic inactivation of the ATM gene in the pathogenesis of lymphoid malignancies, and strongly suggests that ATM functions as a tumour suppressor. (bmj.com)
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)
In addition to clinico-pathological high-risk groups, patients with KIT mutations, genomic complexity, genomic gains and deletions at either 1p or 22q showed a significantly shorter disease-free survival. (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)
Hematological disorders are typically associated with hematopoietic stem cells mutations and chromosomal aberrations such as aneuploidy or euploidy ( Zagozdzon and Golab, 2015 ZAGOZDZON, R. and GOLAB, J., 2015. (scielo.br)
MODY5 is due to HNF1B point mutations in half the cases, and is associated to a chromosome 17q12 deletion encompassing the HNF1B gene in the other half ( 3 , 4 ). (diabetesjournals.org)
Following the observation of a patient with typical MODY5 and PE (case 1, Table 1 ), we have reviewed the files of 59 adult patients (29 males, 30 females) with an HNF1B molecular anomaly (31 mutations, 28 deletions). (diabetesjournals.org)
The most common mutations that cause Pelizaeus-Merzbacher disease are duplications of a region of the X chromosome that includes the entire PLP1 gene. (medscape.com)
In most cases, Pelizaeus-Merzbacher disease is caused by mutations of PLP1 on the long arm of the X chromosome (Xq22). (medscape.com)
Approximately 15-20% of mutations in Pelizaeus-Merzbacher disease are point mutations or other small mutations that result in base substitutions, insertions, or deletions. (medscape.com)
Thus, although PIGA mutations are established as pathogenetic drivers of PNH, larger deletions of the locus are rare. (annexpublishers.co)
Point mutations are the most usual constitutional NF2 mutations in NF2 patients, whereas small deletions are the main causal event in unilateral sporadic vestibular schwannoma. (bmj.com)

In vitro mammalian chromosome aberration test with Chinese hamster lung fibroblasts (met. (europa.eu)

We also detected 13 loci with recurrent/overlapping CNV in unrelated cases, and at these sites, deletions and duplications affecting the same gene(s) in different individuals and sometimes in asymptomatic carriers were also found. (nih.gov)
Chromosome counts can identify numerical changes, such as chromosome deletions or duplications. (vin.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)
Approximately 60-70% of cases of Pelizaeus-Merzbacher disease result from duplications of the region of the X chromosome that contains PLP1 (caused, it has been proposed, by defective deoxyribonucleic acid [DNA] replication). (medscape.com)

Our most compelling result discovered CNV at 16p11.2 (p = 0.002) (with characteristics of a genomic disorder) at approximately 1% frequency. (nih.gov)
For a subset of 29 tumors, comparative genomic hybridization was additionally used to screen for chromosome copy number aberrations. (biomedcentral.com)
Cancer is thought to arise through the accumulation of genomic aberrations evolving under Darwinian selection. (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)
This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. (hindawi.com)
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)

Double minute chromosomes (dmins) are a form of gene amplification presenting as small spherical paired chromatin bodies. (hindawi.com)
The current study attempts to demonstrate the existence of double minute chromosomes via FLT3 gene amplification in a patient diagnosed with chronic myelomonocytic leukemia (CMML). (hindawi.com)
Double minute chromosomes (dmins) are cytogenetic indicators of extrachromosomal gene amplification which usually act as small spherical paired chromatin particles [ 1 ]. (hindawi.com)
It allowed identification of supernumerary ring giant chromosomes and double-minute chromosomes (dmin) in WDLPS and DDLS. (biomedcentral.com)

The current version of the model gives predictions of the yields and sizes of translocations, dicentrics, rings, and more complex-type aberrations formed in the G 0 /G 1 cell cycle phase during the first cell division after irradiation. (bioone.org)
patients The most frequent abnormality was trisomy 21 cases, Structural chromosomal abnormalities were represented by translocations, deletions 5p- 17p-isochromosomes, ring chromosomes. (ujhelyijeno.hu)
HMGA2 is located in an area on chromosome 12q13 frequently involved in translocations and amplifications in benign, mesenchymal tumors. (annexpublishers.co)
Specific recurring chromosomal translocations and deletions are found in a variety of cancers. (bvsalud.org)

In all cases, the p16 gene deletion was observed. (iiarjournals.org)
In five cases with p16 gene deletion, homozygous deletion was detected. (iiarjournals.org)
Conclusion: Numerical aberrations of chromosome 9 and p16 gene deletion are common findings in ovarian cancer. (iiarjournals.org)
Among the methods used for cytogenetic evaluation was the FISH technique for p16 gene deletion. (iiarjournals.org)
Our results suggest that occupational exposure to styrene has genotoxic effects that are potentiated by the GSTT1 gene deletion. (unipi.it)
SHOX gene analysis revealed a complete gene deletion and is the likely cause of his short stature. (juniperpublishers.com)

Structural variation (copy number variation [CNV] including deletion and duplication, translocation, inversion) of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is unknown. (nih.gov)
Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. (scielo.br)
Chronic myeloid leukemia (CML) is genetically characterized by the presence of the reciprocal translocation t(9;22)(q34;q11), resulting in a BCR/ABL gene fusion on the derivative chromosome 22 called the Philadelphia (Ph) chromosome. (lu.se)

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)

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 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)
Despite the extremely low frequency, inversion of 7q22 appears to play a crucial role for myelodysplastic syndrome in this patient. (biomedcentral.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)

3 Mbp) that are below the resolution limits of current cytogenetic analysis techniques, we present predictions of hypothesized small deletions that may be produced as a byproduct of properly repaired DNA double-strand breaks (DSB) by nonhomologous end-joining. (bioone.org)

Papillomavírus első tünetei analyzed the types of genetic abnormalities in children with intellectual disability, associated with congenital anomalies, and we determined the frequency of chromosome aberrations detected by conventional cytogenetic analysis and molecular genetic testing. (ujhelyijeno.hu)

Somatic copy number aberrations (CNAs) occur commonly in human cancer and evaluation of their characteristic patterns may be used as a diagnostic tool, especially in soft tissue sarcomas [ 3 ]. (biomedcentral.com)
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)

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)
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 most recurrent numerical alterations were gains in rat chromosome 4 (RNO4) and losses in RNO15. (biomedcentral.com)
We have identified numerical aberrations in 5 lymphoma patients, with 2 of the patients having multiple time points. (vin.com)

We report an overall mutation frequency of 87.5%, with 76.25% of the tumors showing alterations in KIT and 11.25% in PDGFRA . (biomedcentral.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)
Herein, we describe cytogenetic, genetic and molecular aberrations in MDS, focusing on epigenetic alterations through PcG. (karger.com)
Cytogenetic alterations were evaluated by analysing the frequency of chromosomal aberrations (CAs) and micronucleated binucleated cells (MNBN) in peripheral blood lymphocytes. (unipi.it)
Specifically, the Glio-DNA panel targets specific genetic and chromosomal alterations involving ATRX chromatin remodeler (ATRX), cyclin dependent kinase inhibitor 2A (CDKN2A), isocitrate dehydrogenase (NADP+) 1 (IDH1) and the telomerase reverse transcriptase (TERT) promoter while also recognizing the co-deletion of 1p/19q, loss of chromosome 10 and gain of chromosome 7. (figshare.com)
Our analysis of NBN sequence variations indicated that potential NBN alterations are present, albeit at a low frequency, in our cohort of high-risk breast cancer cases. (biomedcentral.com)

In fact, only a small fraction of the initial damage is transduction of late chromosomal damage has also been measured in the progeny of human lymphocytes that were exposed with much higher frequency in the progeny of cells that were exposed to heavy ions compared to gamma rays. (wikipedia.org)
Susceptibility to induction of chromosomal damage by metabolites of 1,3-butadiene and its relationship to 'spontaneous' sister chromatid exchange frequencies in human lymphocytes. (cdc.gov)
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)

Meta-analysis of genome scans for bipolar disorder and schizophrenia have also identified chromosome 22q11-13 as one of the strongest linkage regions for both syndromes [ 16 ]. (biomedcentral.com)

Novel multicolor fluorescence painting techniques of human chromosomes have clearly demonstrated that high-LET α-particles and Fe-ions induce many more complex rearrangements will ultimately lead to cell death. (wikipedia.org)
Under the conditions of the study the test material did not induce a significant level of chromosome aberrations in Chinese hamster V79 cells either with or without metabolic activation. (europa.eu)
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)

For palms with a shifted or abnormal distribution ratio, the SNP allelic frequencies were plotted along the pseudo-chromosomes. (mpob.gov.my)
We anticipate that the patients will have slightly abnormal chromosome numbers at the time of diagnosis. (vin.com)
Their abnormal chromosome counts will worsen during the course of treatment and then return to near normal counts after treatment ceases. (vin.com)
Once the disease recurs, chromosome counts will return to or exceed their most abnormal count. (vin.com)
Abnormal number or structure of chromosomes. (lookformedical.com)

Heavy charged particles are very effective at producing chromosomal exchanges with RBE values exceeding 30 in interphase (as visualized using premature chromosome condensation) and 10 at the post-irradiation mitosis for energetic iron (Fe) ions. (wikipedia.org)
Because of the instability of a ring Y chromosome during mitosis, a second monosomic cell line is often present in these patients [ 2 ]. (juniperpublishers.com)

In hematopoietic malignancies, many of these chromosomal aberrations result from mistakes involving V(D)J recombination. (bvsalud.org)

Despite their genetically complex nature, available data indicate that variant rearrangements do not confer any specific phenotypic or prognostic impact as compared to CML with a standard Ph chromosome. (lu.se)
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. (biomedcentral.com)
ICF (OMIM #24242860) is a rare autosomal recessive disease that involves agammaglobulinemia or hypoglobulinemia with B cells as well as DNA rearrangements targeted to the centromere-adjacent heterochromatic region (qh) of chromosomes 1 and/or 16 (and sometimes 9) in mitogen-stimulated lymphocytes. (biomedcentral.com)
The frequency of these rearrangements is high enough to be detected upon routine cytogenetic examination of metaphase chromosomes. (biomedcentral.com)
Possible approaches for cytogenomic assessment of couples with balanced chromosome rearrangements and problems like reproductive failures were considered and suggested as useful part of effective genetic counseling. (metasystems-probes.com)

Furthermore, the frequency of complex karyotype was 30 (15%), while normal was seen in 171 (85%) patients. (scielo.br)
A post-natal karyotype and chromosomal SNP microarray revealed deletions of both terminal regions of the Y chromosome, consistent with the prenatal diagnosis of the ring Y chromosome. (juniperpublishers.com)
On karyotype, the presumptive ring Y chromosome was present in 29% of the cells and a single X chromosome was present in the other 71% of cells. (juniperpublishers.com)

Cytogenetic characterization of the paraben-treated cells demonstrated telomere shortening associated with telomere loss and telomere deletions in L5178Y and TK6 cells and lymphocytes of the paraben sensitive-donor. (metasystems-probes.com)

Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup. (nih.gov)
Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)

The micronucleus assay was coupled with centromeric fluorescence in situ hybridization to distinguish micronuclei (MN) arising from chromosomal breakage (C - MN) from those harboring whole chromosomes (C + MN). (unipi.it)
The formation of a ring Y chromosome involves terminal breakage in both chromosomal arms (p and q arms) and fusion of the resulting ends with loss of the deleted distal material ( Figure 1 ). (juniperpublishers.com)
The Nijmegen Breakage Syndrome is a chromosomal instability disorder characterized by microcephaly, growth retardation, immunodeficiency, and increased frequency of cancers. (biomedcentral.com)
or other CHROMOSOME BREAKAGE related aberrations. (lookformedical.com)
Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. (lookformedical.com)

Indications are that: for high-LET radiation, where complex DSBs occur with high frequency, little repair occurs, leading to cell death or the mis-rejoining of unrepairable ends with other radiation-induced DSB leads to large DNA deletions and chromosome aberrations. (wikipedia.org)
Loss of function of the p16 gene has been reported to occur mainly by homozygous deletion, mutation or aberrant DNA methylation of the promoter of the region ( 5 - 8 ). (iiarjournals.org)

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)

Much of this DNA hypomethylation is in 1qh, 9qh, and 16qh, regions that are the site of whole-arm deletions, chromatid and chromosome breaks, stretching (decondensation), and multiradial chromosome junctions in mitogen-stimulated lymphocytes. (biomedcentral.com)
Lymphocytes from sensitive individuals had nearly four times more chromatid deletions, 6.2 times more isochromatid deletions, and 19 times more chromatid exchanges induced by diepoxybutane. (cdc.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)

Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. (biomedcentral.com)

No clear-cut differences as regards type and prevalence of additional aberrations seem to exist between CML with standard t(9;22) and CML with variants, except for slightly lower frequencies of the most common changes in the latter group. (lu.se)

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)

If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)

23 pairs of chromosomes. (cdc.gov)
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
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)
All the other chromosomes are still arranged in pairs of two, but. (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)

Inclusion of other genes in the duplicated region, or inclusion of aberrations of genes at the duplication endpoints, may potentially affect the phenotype. (medscape.com)

Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)
These chromosomes contain amplified segments from the 12q13q15 region, including MDM2, CDK4 and HMGA2 oncogenes. (biomedcentral.com)

Under the conditions of the study, treatment with the test material did result in a statistically significant and biologically relevant, dose dependent increase in the mutation frequency in the presence of a rat metabolic activation system (S9 fraction) in Assay 1, the observed effect was repeatable within or between assays. (europa.eu)
Confirmation of Phenotypes of Tester Strains: The phenotypes of the tester strains used in the bacterial reverse mutation assays with regard to membrane permeability (rfa), UV sensitivity (uvrA and uvrB), ampicillin resistance (amp), as well as spontaneous mutation frequencies are checked regularly according to Ames et al. (europa.eu)
Among the six patients with MODY5 and PE, an HNF1B point mutation was found in four patients (three probands) and an HNF1B deletion in two patients ( Table 1 ). (diabetesjournals.org)
Au WY, Fung AT, Ma ES, Liang RH, Kwong YL: Low frequency of FLT3 gene internal tandem duplication and activating loop mutation in therapy-related acute myelocytic leukemia and myelodysplastic syndrome. (karger.com)

However, the clinical impact of additional cytogenetic and molecular genetic aberrations is most likely modified by the treatment modalities used. (lu.se)

The frequencies of dmin in acute myeloid leukemia (AML) range from 0.3% to 2.8% [ 4 ]. (hindawi.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)
Deletions within region 1p36 have also been associated with another condition called neuroblastoma. (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)

Copy number aberrations (CNAs) were identified in 98% of WDLPS and DDLPS and in 95% of MLPS cases. (biomedcentral.com)
In MLPS, the most frequent CNAs were losses of chromosome 6 (40%) and gains of chromosome 1 (30%), with the minimal overlapping regions 6q14.1q22.31 and 1q25.1q32.2, respectively. (biomedcentral.com)

The prognostic significance of the secondary genetic changes is not uniform, although abnormalities involving chromosome 17, e.g., i(17q), have repeatedly been shown to be ominous. (lu.se)
Uncovering the prognostic significance of these genetic aberrations is fundamental for risk stratification and ultimately individualized treatment. (biomedcentral.com)

In addition, there are only a small number of recurrent copy number aberrations and rare gene fusions. (springer.com)

There were no significant increases in the frequency of revertant colonies recorded for any of the bacterial strains, with any dose of the test item, either with or without metabolic activation (S9-mix) and the test item was considered to be non-mutagenic (OECD 471, EU Method B.13/14, OPPTS 870.5100 and relevant Japanese guidelines). (europa.eu)

We present a computational model for calculating the yield of radiation-induced chromosomal aberrations in human cells based on a stochastic Monte Carlo approach and calibrated using the relative frequencies and distributions of chromosomal aberrations reported in the literature. (bioone.org)

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)
In the present work we used spectral karyotyping (SKY) to identify cancer-related aberrations in a well-characterized experimental model for spontaneous endometrial carcinoma in the BDII rat tumor model. (biomedcentral.com)
However, it remains unclear when the aberrations associated with metastasis emerge during tumor evolution. (nature.com)
Chromosomal aberrations from tumor biopsy samples have been studied, and certain repetitive anomalies were shown to correlate with prognosis. (vin.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)
The next most prevalent aberrations include a cohort of chromatin-modifying genes with diverse roles including PBRM1 , SETD2 , BAP1 , and KMD5C . (springer.com)

The importance of chromosomal rearrangement is more enhanced when it is detected as a sole aberration. (biomedcentral.com)
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)

Chromosome 22q11.2 microdeletion is associated with DiGeorge and Velocardiofacial syndromes (DG/VCF) and provides the most convincing evidence of an association between molecular cytogenetic abnormality and schizophrenia. (biomedcentral.com)
Chromosome 22q11.2 region provides the most convincing evidence of an association between molecular cytogenetic abnormality and schizophrenia. (biomedcentral.com)

Derivative chromosomes are indicated with arrows. (schleiden-eifel.de)

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 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)

The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
Twenty-four variants were identified in our case series and their frequency was further evaluated in healthy controls. (biomedcentral.com)

A previously developed DNA-fragmentation model for high- and low-LET radiation called the NASARadiationTrackImage model was enhanced to simulate a stochastic process of the formation of chromosomal aberrations from DNA fragments. (bioone.org)

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)
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)
Variability of phenotype depends on the percentage of monosomic cells in different tissues and on the genetic material deleted during the formation of ring Y chromosome. (juniperpublishers.com)

The presence of chromosomes that are lacking telomeres in the progeny of cells that were exposed to heavy ions is particularly interesting. (wikipedia.org)
Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (cdc.gov)
Among them, 25 cases presented deletion of p16 gene in 21.43%-86.3% of the examined cells. (iiarjournals.org)
FLT3 (FMS-related tyrosine kinase 3) located on chromosome 13q12.2 encodes a receptor tyrosine kinase (RTK) that activates the Ras and PI3 kinase pathway leading to the increased proliferation and inhibition of apoptosis in hemopoietic progenitor cells [ 7 ]. (hindawi.com)
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)
This indicated that inv(7)(q22q36) seen in his bone marrow cells was not a constitutional aberration. (biomedcentral.com)
FISH analysis demonstrated the presence of a ring Y chromosome in 37.1% of the cells. (juniperpublishers.com)
A high frequency of MN was observed in the TK6 cells after a short exposure (3 h) in the presence of S9 and a long exposure (26 h) without S9. (metasystems-probes.com)

This is an inherently dangerous process, however, because double-strand breaks are introduced into the chromosomes. (bvsalud.org)

The allele frequencies were not significantly different between the patients and the controls, and we did not observe any haplotype specifically associated with ET. (nel.edu)
To test the specificity of our panel, we used two reference mutated DNAs verifying that NGS allele frequency measurement was highly accurate and sensitive. (figshare.com)

Atm deficient mice exhibit many of the symptoms found in patients with AT and have a high frequency of thymic lymphoma. (bmj.com)
The non-random nature of these events, as documented by their high frequencies of incidence, is suggesting for dynamic selection of these changes during experimental EC tumorigenesis and therefore for their potential contribution into development of this malignancy. (biomedcentral.com)
These syndromes are associated with variable phenotypic features that includes cardiac defects, palate anomalies, characteristic physiognomy, learning difficulties and relatively high frequency of severe mental illness like schizophrenia. (biomedcentral.com)

It has been described as an isolated anomaly or as part of many genetic syndromes, including monogenic diseases and chromosome aberrations (reviewed in 5 ). (diabetesjournals.org)

Do Peripheral Lymphocytic Chromosomal Aberrations in Dogs with Lymphoma Change During and After Treatment? (vin.com)
We have determined that chromosomal aberrations can be identified in the peripheral blood of canine lymphoma patients. (vin.com)

Additionally, the model was used to scale chromosomal exchanges in two or three chromosomes that were obtained from whole-chromosome FISH painting analysis techniques to whole-genome equivalent values. (bioone.org)
Asimakopoulos FA, White NJ, Nacheva E, Green AR: Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes. (karger.com)
After 24 hours, the cultures were treated with bromodeoxyuridine, processed, and stained differentially for the analysis of SCEs and chromosomal aberrations. (cdc.gov)

For a subset of 29 patients with fresh-frozen tisue, CGH was used to screen for chromosomal copy number aberrations. (biomedcentral.com)
Importantly, eight tumours (10%) showed gain of copy number on chromosome 9q34. (bmj.com)
We have developed a computational method GeneToCN that counts the frequencies of gene-specific k-mers in FASTQ files and uses this information to infer copy number of the gene. (bvsalud.org)

Anatomy66

Organisms6

Diseases35

Chemicals and Drugs32

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Psychiatry and Psychology1

Phenomena and Processes144

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture1

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Chromosomal aberration7

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Duplications4

Genomic6

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Translocations4

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Translocation3

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Small deletions1

Cytogenetic analysis1

Somatic2

Numerical5

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Human lymphocytes3

22q111

Induce3

Abnormal5

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Structural2

Breakage5

Occur2

Microarray1

Chromatid3

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Prevalence1

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Pairs6

Genes in the duplicated1

Segments2

Mutation4

Molecular genetic1

Dmin1

1p362

3p211

CNAs2

Prognostic significance2

Recurrent copy1

Mutagenic1

Radiation-induced1

Tumor4

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Abnormality2

Derivative1

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Variants2

Fragments1

Genetic material3

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Analysis3

Copy3