DiseasesAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes
AneuploidyChromosomal InstabilityIn Situ Hybridization, FluorescencePreimplantation DiagnosisChromosome AberrationsKaryotypingChromosome SegregationPloidiesTrisomy
ChromosomesInduction of AneuploidyConsequences of aneuploidyFetusesAneuploidAutosomal aneuploidyChromosomal aneuploidySomaticTumorsAbnormalSpermArisesSyndromeCancerTrisomy 21PrenatalChromosome segregationCfDNADisomyPregnanciesAbnormalitiesGeneticAnalysesDevelopmentalAdultCellularAlterationsAssayMiscarriageScientistsCentrosomeRepresentationCommonLevelsCommonlyDependentHuman
Chromosomes16
  • Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. (wikipedia.org)
  • Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells (nondisjunction). (wikipedia.org)
  • Most cases of aneuploidy in the autosomes result in miscarriage, and the most common extra autosomal chromosomes among live births are 21, 18 and 13. (wikipedia.org)
  • Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated. (medlineplus.gov)
  • The resulting errors in the sorting of chromosomes typically leads to the aneuploidy that occurs in MVA syndrome. (medlineplus.gov)
  • Aneuploidy is defined as the loss and/or gain of chromosomes to produce a numerical deviation from multiples of the haploid chromosomal complement ( King and Stansfield, 1990 ). (jneurosci.org)
  • We tested 2,970 prenatal samples of all referral indications using a rapid BACs-on-Beads-based assay with probes for sex chromosomes, common autosomal aneuploidies, and 20 microdeletion/microduplication syndromes, designed as an alternative to microarray in low-risk pregnancies and an alternative to rapid aneuploidy testing in pregnancies also undergoing microarray analysis. (nih.gov)
  • Aneuploidy is known to confer cellular biology effects both dependent and independent of the particular chromosomes altered. (techscience.com)
  • It was the first to be shown to alter oogenesis and lead to the formation of oocytes with an abnormal number of chromosomes (aneuploidy), in turn responsible for numerous miscarriages and fertility disorders. (cea.fr)
  • Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder . (wikidoc.org)
  • Aneuploidy of sex chromosomes can also occur. (wikidoc.org)
  • Gains and losses of whole chromosomes, termed aneuploidy , is seen in at least half of all tumors. (lu.se)
  • We study how aneuploidy affects the transcriptome and proteome as well as the role of chromatin architecture in in the context of aneuploidy, using NGS-based methods as well as cytogenetic analyses of chromosomes. (lu.se)
  • However, human eggs frequently contain an incorrect number of chromosomes - a condition termed aneuploidy, which is much more prevalent in eggs than in either sperm or in most somatic cells. (mbexc.de)
  • Chromosomal aneuploidy refers to abnormal numbers of chromosomes in the egg. (wdxcyber.com)
  • In this study, we evaluated the random aneuploidy rate with chromosomes 9 and 18 in bone marrow from treated and untreated patients. (tau.ac.il)
Induction of Aneuploidy1
  • These data suggest that one possible mechanism for lead chromate-induced carcinogenesis is through centrosome dysfunction, leading to the induction of aneuploidy. (elsevierpure.com)
Consequences of aneuploidy3
  • Here, we examined the consequences of aneuploidy on the proteome of aneuploid budding yeast strains. (elifesciences.org)
  • PloidyNet': The impact of chromosomal instability on health: Molecular causes and consequences of aneuploidy' - A Marie Curie Initial Training Network. (umcg.nl)
  • Although it is clear that aneuploidy can contribute to cancer, the molecular consequences of aneuploidy and how it contributes to malignant transformation remain elusive. (umcg.nl)
Fetuses3
  • The most frequent aneuploidy in humans is trisomy 16 and fetuses affected with the full version of this chromosome abnormality do not survive to term, although it is possible for surviving individuals to have the mosaic form, where trisomy 16 exists in some cells but not all. (wikipedia.org)
  • Further, many fetuses with aneuploidy will not demonstrate significant sonographic findings, making detection limited. (lww.com)
  • Karyotyping of cells obtained by either amniocentesis or CVS is the standard and definitive means of diagnosing aneuploidy in fetuses. (cdc.gov)
Aneuploid1
  • Interestingly, increased protein turnover attenuates ROS levels and this novel aneuploidy-associated signature and improves the fitness of most aneuploid strains. (elifesciences.org)
Autosomal aneuploidy2
Chromosomal aneuploidy2
Somatic2
  • However, mitotic aneuploidy may be more common than previously recognized in somatic tissues, and aneuploidy is a characteristic of many types of tumorigenesis (see below). (wikipedia.org)
  • Combining aneuploidy with somatic mutation detection and eight standard protein biomarkers yielded a median sensitivity of 80% in these eight cancer types, while only 1% of 812 healthy controls scored positive. (nih.gov)
Tumors1
  • Here, we provide clinical evidence that high expression of PLK1 could have detrimental effects in tumors with DNA aneuploidy, which may increase the risk of recurrence in gastric cancer patients. (elsevierpure.com)
Abnormal1
  • Aneuploidies were detected in 7.3% and partial chromosome abnormalities in 0.45% (n = 13), including 5 referred for maternal age, abnormal maternal serum screen, or isolated ultrasound markers. (nih.gov)
Sperm4
  • Background: A study of the prevalence of sperm aneuploidy among pesticide factory workers was conducted in Anhui, China. (unc.edu)
  • The crude proportion of all aneuploidy combined was 0.30% and 0.19% for sperm from exposed and unexposed men, respectively. (unc.edu)
  • Poisson regression with overdispersion adjustment yielded significantly different crude risks of aneuploidy - 3.03 and 1.94 per 1,000 sperm from exposed and unexposed men, respectively - giving a rate ratio of 1.56 (95% CI, 1.06-2.31). (unc.edu)
  • Conclusions: We conclude that occupational exposure to organophosphate pesticides moderately increases the prevalence of sperm aneuploidy. (unc.edu)
Arises2
  • Aneuploidy arises from errors in chromosome segregation, which can go wrong in several ways. (wikipedia.org)
  • Aneuploidy arises as a consequence of aberrant meiosis during egg development from its progenitor cell, the oocyte. (mbexc.de)
Syndrome4
  • The most common aneuploidy that infants can survive with is trisomy 21, which is found in Down syndrome, affecting 1 in 800 births. (wikipedia.org)
  • The most recognized forms of aneuploidy are the trisomy diseases of Down syndrome and Edwards syndrome . (wikidoc.org)
  • In the United States, the current standard of care in obstetrical practice is to offer either CVS or amniocentesis to women who will be greater than or equal to 35 years of age when they give birth, because these women are at increased risk for giving birth to infants with Down syndrome and certain other types of aneuploidy. (cdc.gov)
  • Aneuploidy: from a physiological mechanism of variance to Down syndrome. (bvsalud.org)
Cancer8
  • His proposition for chromosomal damage by cell aneuploidy , supports the suspicion that many of us have had and is being established more so in the mainstream …that cancer is caused by combination of poor diet, lethargy, non-nutritional, toxin ridden industrial food manufacturing, fast foods and man made environmental toxins and carcinogens of all sorts. (notmytribe.com)
  • Aneuploidy appears to have detrimental consequences for the physiology of normal cells, inhibiting rather than stimulating cell proliferation, but cancer cells seem to benefit from aneuploidy suggesting that cancer cells have acquired mutations that help them cope with aneuploidy. (umcg.nl)
  • Abnormalities in DNA ploidy are a consequence of genomic instability that has been shown to predict future cancer risk in non-dysplastic BO when measured by flow cytometry, with a relative risk of 5.0 for aneuploidy ( Reid et al, 2000b ). (nature.com)
  • What Is Aneuploidy and Why Is It So Common in Cancer Cells? (cancer.gov)
  • Indeed, high expression of PLK1 was also associated with DNA aneuploidy in clinical gastric cancer specimens. (elsevierpure.com)
  • Aneuploidy in Cancer and Aging. (bvsalud.org)
  • Here, we suggest a new perspective to reconcile this apparent paradox and share an unexpected link between aneuploidy and aging that was discovered through attempts to investigate the CIN- cancer relationship. (bvsalud.org)
  • IC à 95 % : 1,4-5,0) était significativement associé à un risque accru de cancer, et ce risque était même supérieur en présence d'un tabagisme paternel important. (who.int)
Trisomy 211
  • Background Free fetal DNA (ffDNA) testing for aneuploidy has recently started being offered to all women in our institution who are high risk for trisomy 21 (aged 35 or over at estimated date of delivery). (bmj.com)
Prenatal1
  • Three clinical guideline publications address use of cfDNA for screening prenatal fetal aneuploidy, also referred to as noninvasive prenatal screening (NIPS). (cdc.gov)
Chromosome segregation4
  • These disturbances may lead ultimately to errors in chromosome segregation during the metaphase of meiosis, and that faulty segregation to oocyte aneuploidy. (cea.fr)
  • Chromosome segregation errors increase in women from their mid-thirties, leading to even higher levels of aneuploidy in eggs from women of advanced maternal age, ultimately causing age-related infertility. (mbexc.de)
  • Here, we cover the two main areas that contribute to aneuploidy: (1) factors that influence the fidelity of chromosome segregation in eggs of women from all ages and (2) factors that change in response to reproductive ageing. (mbexc.de)
  • When chromosome segregation is flawed, the emerging daughter cells acquire unbalanced chromosome content, a state known as aneuploidy. (umcg.nl)
CfDNA1
  • Massively parallel sequencing of maternal cell-free DNA (cfDNA testing) has been shown better at predicting fetal aneuploidies than standard screening in a new study among a general obstetric population. (contemporaryobgyn.net)
Disomy1
Pregnancies1
  • Twenty-one centers in the United States were included in the research, which was performed on 1914 women (mean age 29.6 years) with singleton pregnancies who were undergoing standard aneuploidy screening with serum biochemical assays with or without nuchal translucency measurement. (contemporaryobgyn.net)
Abnormalities1
  • Some people with TRIP13 gene mutations have chromosome abnormalities that indicate problems with chromosome sorting but do not develop aneuploidy. (medlineplus.gov)
Genetic5
  • We therefore examined the uptake rate of ffDNA for aneuploidy screening in women of advanced maternal age who had been seen by a genetic counsellor. (bmj.com)
  • Although preimplantation genetic screening (PGS) of a removed blastomere for aneuploidy would theoretically increase the likelihood of embryonic implantation, reports in the literature have been conflicting with regard to the efficacy of this technique. (medscape.com)
  • Scholars@Duke publication: Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed embryo transfer and clinical miscarriage. (duke.edu)
  • OBJECTIVE: To determine if preimplantation genetic testing for aneuploidy (PGT-A) is cost-effective for patients undergoing in vitro fertilization (IVF). (duke.edu)
  • To our knowledge, this is the first report on new chromosomal changes such as random aneuploidy and triploidy under imatinib treatment, but more studies are needed to investigate the long-term effect of the imatinib treatment on genetic instability. (tau.ac.il)
Analyses4
  • Aneuploidy, the loss or gain of chromosome arms, appears less prevalent in normal tissue in these clonal mutant next-generation sequencing analyses. (techscience.com)
  • Given that aneuploidy is (a) known to contribute to cell biology and (b) is present at some detectable level in many cell types, it is valuable for single-cell sequencing studies to include aneuploidy information in their analyses. (techscience.com)
  • Our proteomic analyses further revealed a novel aneuploidy-associated protein expression signature characteristic of altered metabolism and redox homeostasis. (elifesciences.org)
  • We use large-scale sequencing and array-based analyses of bulk and single cells as well as experimental systems to understand whether aneuploidy is always associated with chromosomal instability (CIN) and to delineate the pathways by which aneuploidy arise. (lu.se)
Developmental1
  • Aneuploidy causes severe developmental defects and is a near universal feature of tumor cells. (elifesciences.org)
Adult1
  • Dr. Marianna Trakala uses a novel inducible mouse model in which she can generate high levels of chromosome missegregation and aneuploidy in adult mice in tissue-specific manner. (mit.edu)
Cellular1
Alterations2
  • Whereas over 900 tools are available to analyze scRNA-seq data (as monitored on https://www.scrna-tools.org/), only a handful output aneuploidy data or its sub-chromosomal equivalent copy number alterations (CNAs). (techscience.com)
  • Our results show that aneuploidy causes alterations in metabolism and redox homeostasis. (elifesciences.org)
Assay1
  • We report a sensitive PCR-based assay called Repetitive Element AneupLoidy Sequencing System (RealSeqS) that can detect aneuploidy in samples containing as little as 3 pg of DNA. (nih.gov)
Miscarriage1
  • In turn, aneuploidy in eggs is a leading cause of infertility, miscarriage and congenital syndromes. (mbexc.de)
Scientists3
  • Scientists refer to the condition whereby cells have an incorrect number of chromosome as aneuploidy . (synonym.com)
  • We encourage scientists to report stochastic aneuploidy events alongside scRNA-seq datasets. (techscience.com)
  • PloidyNet brings together 9 academic and 3 industrial partners throughout Europe, to train 11 young promising scientists in the field of aneuploidy over the next four years. (umcg.nl)
Centrosome1
  • In cell lines, overexpression of PLK1 induced centrosome amplification and multipolar spindles, potentially leading to DNA aneuploidy. (elsevierpure.com)
Representation1
  • One biologically relevant variable is readily inferred from scRNA-seq gene count tables regardless of individual gene representation within single cells: aneuploidy. (techscience.com)
Common1
Levels2
  • The scientific challenge of PloidyNet is thus to determine and compare the molecular consequences of different levels of aneuploidy. (umcg.nl)
  • We performed molecular clustering using data on chromosome-arm-level aneuploidy, DNA hypermethylation, mRNA, and miRNA expression levels and reverse-phase protein arrays, of which all, except for aneuploidy, revealed clustering primarily organized by histology, tissue type, or anatomic origin. (nih.gov)
Commonly1
  • The most commonly reported phenotype is the activation of senescence programs in association with aneuploidy. (techscience.com)
Dependent1
Human1
  • Toward determining the presence of constitutional aneuploidy in the human brain, we report here an analysis of the frequency of chromosome 21 gain and loss among neurons and non-neuronal cells isolated from the cerebral cortex and hippocampus of normal individuals ranging from 2 to 86 years of age. (jneurosci.org)