The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. 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).
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Mapping of the KARYOTYPE of a cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
The degree of replication of the chromosome set in the karyotype.
The possession of a third chromosome of any one type in an otherwise diploid cell.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A variation from the normal set of chromosomes characteristic of a species.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility.
Agents which affect CELL DIVISION and the MITOTIC SPINDLE APPARATUS resulting in the loss or gain of whole CHROMOSOMES, thereby inducing an ANEUPLOIDY.
Minute cells produced during development of an OOCYTE as it undergoes MEIOSIS. A polar body contains one of the nuclei derived from the first or second meiotic CELL DIVISION. Polar bodies have practically no CYTOPLASM. They are eventually discarded by the oocyte. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
The cell center, consisting of a pair of CENTRIOLES surrounded by a cloud of amorphous material called the pericentriolar region. During interphase, the centrosome nucleates microtubule outgrowth. The centrosome duplicates and, during mitosis, separates to form the two poles of the mitotic spindle (MITOTIC SPINDLE APPARATUS).
Mad2 is a component of the spindle-assembly checkpoint apparatus. It binds to and inhibits the Cdc20 activator subunit of the anaphase-promoting complex, preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Mad2 is required for proper microtubule capture at KINETOCHORES.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
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.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
The age of the mother in PREGNANCY.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Abnormal genetic constitution in males characterized by an extra Y chromosome.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
DNA present in neoplastic tissue.
A technique that labels specific sequences in whole chromosomes by in situ DNA chain elongation or PCR (polymerase chain reaction).
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.
A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.
The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra.
Analysis of the level of specific BIOMARKERS in a pregnant woman's sera to identify those at risk for PREGNANCY COMPLICATIONS or BIRTH DEFECTS.
An assisted fertilization technique consisting of the microinjection of a single viable sperm into an extracted ovum. It is used principally to overcome low sperm count, low sperm motility, inability of sperm to penetrate the egg, or other conditions related to male infertility (INFERTILITY, MALE).
The cellular signaling system that halts the progression of cells through MITOSIS or MEIOSIS if a defect that will affect CHROMOSOME SEGREGATION is detected.
Female germ cells derived from OOGONIA and termed OOCYTES when they enter MEIOSIS. The primary oocytes begin meiosis but are arrested at the diplotene state until OVULATION at PUBERTY to give rise to haploid secondary oocytes or ova (OVUM).
The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.
An aurora kinase that localizes to the CENTROSOME during MITOSIS and is involved in centrosome regulation and formation of the MITOTIC SPINDLE. Aurora A overexpression in many malignant tumor types suggests that it may be directly involved in NEOPLASTIC CELL TRANSFORMATION.
The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation.
Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.
Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions.
3-(p-Fluorophenyl)-alanine.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
A technique encompassing morphometry, densitometry, neural networks, and expert systems that has numerous clinical and research applications and is particularly useful in anatomic pathology for the study of malignant lesions. The most common current application of image cytometry is for DNA analysis, followed by quantitation of immunohistochemical staining.
Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
The possession of four chromosomes of any one type in an otherwise diploid cell.
A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.
A prenatal ultrasonography measurement of the soft tissue behind the fetal neck. Either the translucent area below the skin in the back of the fetal neck (nuchal translucency) or the distance between occipital bone to the outer skin line (nuchal fold) is measured.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Undifferentiated cells resulting from cleavage of a fertilized egg (ZYGOTE). Inside the intact ZONA PELLUCIDA, each cleavage yields two blastomeres of about half size of the parent cell. Up to the 8-cell stage, all of the blastomeres are totipotent. The 16-cell MORULA contains outer cells and inner cells.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
An alkaloid isolated from Colchicum autumnale L. and used as an antineoplastic.
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.

Telomere loss in somatic cells of Drosophila causes cell cycle arrest and apoptosis. (1/2123)

Checkpoint mechanisms that respond to DNA damage in the mitotic cell cycle are necessary to maintain the fidelity of chromosome transmission. These mechanisms must be able to distinguish the normal telomeres of linear chromosomes from double-strand break damage. However, on several occasions, Drosophila chromosomes that lack their normal telomeric DNA have been recovered, raising the issue of whether Drosophila is able to distinguish telomeric termini from nontelomeric breaks. We used site-specific recombination on a dispensable chromosome to induce the formation of a dicentric chromosome and an acentric, telomere-bearing, chromosome fragment in somatic cells of Drosophila melanogaster. The acentric fragment is lost when cells divide and the dicentric breaks, transmitting a chromosome that has lost a telomere to each daughter cell. In the eye imaginal disc, cells with a newly broken chromosome initially experience mitotic arrest and then undergo apoptosis when cells are induced to divide as the eye differentiates. Therefore, Drosophila cells can detect and respond to a single broken chromosome. It follows that transmissible chromosomes lacking normal telomeric DNA nonetheless must possess functional telomeres. We conclude that Drosophila telomeres can be established and maintained by a mechanism that does not rely on the terminal DNA sequence.  (+info)

Progression from colorectal adenoma to carcinoma is associated with non-random chromosomal gains as detected by comparative genomic hybridisation. (2/2123)

AIMS: Chromosomal gains and losses were surveyed by comparative genomic hybridisation (CGH) in a series of colorectal adenomas and carcinomas, in search of high risk genomic changes involved in colorectal carcinogenesis. METHODS: Nine colorectal adenomas and 14 carcinomas were analysed by CGH, and DNA ploidy was assessed with both flow and image cytometry. RESULTS: In the nine adenomas analysed, an average of 6.6 (range 1 to 11) chromosomal aberrations were identified. In the 14 carcinomas an average of 11.9 (range 5 to 17) events were found per tumour. In the adenomas the number of gains and losses was in balance (3.6 v 3.0) while in carcinomas gains occurred more often than losses (8.2 v 3.7). Frequent gains involved 13q, 7p, 8q, and 20q, whereas losses most often occurred at 18q, 4q, and 8p. Gains of 13q, 8q, and 20q, and loss of 18q occurred more often in carcinomas than in adenomas (p = 0.005, p = 0.05, p = 0.05, and p = 0.02, respectively). Aneuploid tumours showed more gains than losses (mean 9.3 v 4.9, p = 0.02), in contrast to diploid tumours where gains and losses were nearly balanced (mean 3.1 v 4.1, p = 0.5). CONCLUSIONS: The most striking difference between chromosomal aberrations in colorectal adenomas and carcinomas, as detected by CGH, is an increased number of chromosomal gains that show a nonrandom distribution. Gains of 13q and also of 20q and 8q seem especially to be involved in the progression of adenomas to carcinomas, possibly owing to low level overexpression of oncogenes at these loci.  (+info)

Malignant transformation of p53-deficient astrocytes is modulated by environmental cues in vitro. (3/2123)

The early incidence of p53 mutation in astrocytomas suggests that it plays an important role in astrocyte transformation. Astrocytes isolated from homozygous p53 knockout mice grow rapidly, lack contact inhibition, and are immortal. Here we tested whether the loss of p53 is sufficient for progression to tumorigenicity of astrocytes. We grew primary astrocytes under three conditions for over 120 population doublings and assessed their antigenic phenotype, chromosome number, and expression of glioma-associated genes as well as their ability to form colonies in soft agarose and tumors s.c. and intracranially in nude mice. Under two conditions (10% FCS and 0.5% FCS plus 20 ng/ml EGF), cells acquired the ability to form colonies in soft agarose and tumors in nude mice, and this was accompanied by the expression of genes, including epidermal growth factor receptor, platelet-derived growth factor receptor alpha and beta, protein kinase Cdelta, and vascular endothelial growth factor, which are known to be aberrantly regulated in human astrocytomas. Under the third condition (0.5% FCS plus 10 ng/ml basic fibroblast growth factor), astrocytes gained the ability to form colonies in soft agarose and had abnormal chromosome numbers similar to cells in the first two conditions but did not form tumors in nude mice or overexpress glioma-associated genes. These data provide experimental evidence for the idea that the malignant progression initiated by the loss of p53 may be subject to modulation by extracellular environmental influences.  (+info)

Preimplantation diagnosis by fluorescence in situ hybridization using 13-, 16-, 18-, 21-, 22-, X-, and Y-chromosome probes. (4/2123)

PURPOSE: Our purpose was to select the proper chromosomes for preimplantation diagnosis based on aneuploidy distribution in abortuses and to carry out a feasibility study of preimplantation diagnosis for embryos using multiple-probe fluorescence in situ hybridization (FISH) on the selected chromosomes of biopsied blastomeres. METHODS: After determining the frequency distribution of aneuploidy found in abortuses, seven chromosomes were selected for FISH probes. Blastomeres were obtained from 33 abnormal or excess embryos. The chromosome complements of both the biopsied blastomeres and the remaining sibling blastomeres in each embryo were determined by FISH and compared to evaluate their preimplantation diagnostic potential. RESULTS: Chromosomes (16, 22, X, Y) and (13, 18, 21) were selected on the basis of the high aneuploid prevalence in abortuses for the former group and the presence of trisomy in the newborn for the latter. Thirty-six (72%) of 50 blastomeres gave signals to permit a diagnosis. Diagnoses made from biopsied blastomeres were consistent with the diagnoses made from the remaining sibling blastomeres in 18 embryos. In only 2 of 20 cases did the biopsied blastomere diagnosis and the embryo diagnosis not match. CONCLUSIONS: If FISH of biopsied blastomere was successful, a preimplantation diagnosis could be made with 10% error. When a combination of chromosome-13, -16, -18, -21, -22, -X, and -Y probes was used, up to 65% of the embryos destined to be aborted could be detected.  (+info)

Micronuclei formation and aneuploidy induced by Vpr, an accessory gene of human immunodeficiency virus type 1. (5/2123)

Vpr, an accessory gene of HIV-1, induces cell cycle abnormality with accumulation at G2/M phase and increased ploidy. Since abnormality of mitotic checkpoint control provides a molecular basis of genomic instability, we studied the effects of Vpr on genetic integrity using a stable clone, named MIT-23, in which Vpr expression is controlled by the tetracycline-responsive promoter. Treatment of MIT-23 cells with doxycycline (DOX) induced Vpr expression with a giant multinuclear cell formation. Increased micronuclei (MIN) formation was also detected in these cells. Abolishment of Vpr expression by DOX removal induced numerous asynchronous cytokinesis in the multinuclear cells with leaving MIN in cytoplasm, suggesting that the transient Vpr expression could cause genetic unbalance. Consistent with this expectation, MIT-23 cells, originally pseudodiploid cells, became aneuploid after repeated expression of Vpr. Experiments using deletion mutants of Vpr revealed that the domain inducing MIN formation as well as multinucleation was located in the carboxy-terminal region of Vpr protein. These results suggest that Vpr induces genomic instability, implicating the possible role in the development of AIDS-related malignancies.  (+info)

Chromosome abnormalities in human embryos. (6/2123)

The presence of numerical chromosome abnormalities in human embryos was studied using fluorescence in-situ hybridization with four or more chromosome-specific probes. When most cells of an embryo are analysed, this technique allows differentiation to be made between aneuploidy, mosaicism, haploidy and polyploidy. Abnormal types of fertilization, such as unipronucleated, tripronucleated zygotes and zygotes with uneven pronuclei, were studied using this technique. We have found a strong correlation between some types of dysmorphism with chromosomal abnormalities. In addition, the more impaired the development of an embryo, the more chromosomal abnormalities were detected in those embryos. Maternal age and other factors were linked to an increase in chromosome abnormalities (hormonal regimes, temperature changes), but not to intracytoplasmic sperm injection.  (+info)

The organization of genetic diversity in the parthenogenetic lizard Cnemidophorus tesselatus. (7/2123)

The parthogenetic lizard species Cnemidophorus tesselatus is composed of diploid populations formed by hybridization of the bisexual species C. tigris and C. septemvittatus, and of triploid populations derived from a cross between diploid tesselatus and a third bisexual species, C. sexlineatus. An analysis of allozymic variation in proteins encoded by 21 loci revealed that, primarily because of hybrid origin, individual heterozygosity in tesselatus is much higher (0.560 in diploids and 0.714 in triploids) than in the parental bisexual species (mean, 0.059). All triploid individuals apparently represent a single clone, but 12 diploid clones were identified on the basis of genotypic diversity occurring at six loci. From one to four clones were recorded in each population sampled. Three possible sources of clonal diversity in the diploid parthenogens were identified: mutation at three loci has produced three clones, each confined to a single locality; genotypic diversity at two loci apparently caused by multiple hybridization of the bisexual species accounts for four clones; and the remaining five clones apparently have arisen through recombination at three loci. The relatively limited clonal diversity of tesselatus suggests a recent origin. The evolutionary potential of tesselatus and of parthenogenetic forms in general may be less severely limited than has generally been supposed.  (+info)

Transchromosomal mouse embryonic stem cell lines and chimeric mice that contain freely segregating segments of human chromosome 21. (8/2123)

At least 8% of all human conceptions have major chromosome abnormalities and the frequency of chromosomal syndromes in newborns is >0.5%. Despite these disorders making a large contribution to human morbidity and mortality, we have little understanding of their aetiology and little molecular data on the importance of gene dosage to mammalian cells. Trisomy 21, which results in Down syndrome (DS), is the most frequent aneuploidy in humans (1 in 600 live births, up to 1 in 150 pregnancies world-wide) and is the most common known genetic cause of mental retardation. To investigate the molecular genetics of DS, we report here the creation of mice that carry different human chromosome 21 (Hsa21) fragments as a freely segregating extra chromosome. To produce these 'transchromosomal' animals, we placed a selectable marker into Hsa21 and transferred the chromosome from a human somatic cell line into mouse embryonic stem (ES) cells using irradiation microcell-mediated chromosome transfer (XMMCT). 'Transchromosomal' ES cells containing different Hsa21 regions ranging in size from approximately 50 to approximately 0.2 Mb have been used to create chimeric mice. These mice maintain Hsa21 sequences and express Hsa21 genes in multiple tissues. This novel use of the XMMCT protocol is applicable to investigations requiring the transfer of large chromosomal regions into ES or other cells and, in particular, the modelling of DS and other human aneuploidy syndromes.  (+info)

Aneuploidy causes severe developmental defects and is a near universal feature of tumor cells. Despite its profound effects, the cellular processes affected by aneuploidy are not well characterized. Here, we examined the consequences of aneuploidy on the proteome of aneuploid budding yeast strains. We show that although protein levels largely scale with gene copy number, subunits of multi-protein complexes are notable exceptions. Posttranslational mechanisms attenuate their expression when their encoding genes are in excess. Our proteomic analyses further revealed a novel aneuploidy-associated protein expression signature characteristic of altered metabolism and redox homeostasis. Indeed aneuploid cells harbor increased levels of reactive oxygen species (ROS). Interestingly, increased protein turnover attenuates ROS levels and this novel aneuploidy-associated signature and improves the fitness of most aneuploid strains. Our results show that aneuploidy causes alterations in metabolism and redox ...
Genomic instability (GIN) is a hallmark of cancer cells that facilitates the acquisition of mutations conferring aggressive or drug-resistant phenotypes during cancer evolution. Chromosomal instability (CIN) is a form of GIN that involves frequent cytogenetic changes leading to changes in chromosome copy number (aneuploidy). While both CIN and aneuploidy are common characteristics of cancer cells, their roles in tumor initiation and progression are unclear. On the one hand, CIN and aneuploidy are known to provide genetic variation to allow cells to adapt in changing environments such as nutrient fluctuations and hypoxia. Patients with constitutive aneuploidies are more susceptible to certain types of cancers, suggesting that changes in chromosome copy number could positively contribute to cancer evolution. On the other hand, chromosomal imbalances have been observed to have detrimental effects on cellular fitness and might trigger cell cycle arrest or apoptosis. Furthermore, mouse models for CIN have
Background: Aneuploidy, a karyotype deviating from multiples of a haploid chromosome set, affects the physiology of eukaryotes. In humans, aneuploidy is linked to pathological defects such as developmental abnormalities, mental retardation or cancer, but the underlying mechanisms remain elusive. There are many different types and origins of aneuploidy, but whether there is a uniform cellular response to aneuploidy in human cells has not been addressed so far. Results: Here we evaluate the transcription profiles of eleven trisomic and tetrasomic cell lines and two cell lines with complex aneuploid karyotypes. We identify a characteristic aneuploidy response pattern defined by upregulation of genes linked to endoplasmic reticulum, Golgi apparatus and lysosomes, and downregulation of DNA replication, transcription as well as ribosomes. Strikingly, complex aneuploidy elicits the same transcriptional changes as trisomy. To uncover the triggers of the response, we compared the profiles with ...
Aneuploidy can be either due to loss of one or more chromosomes or due to addition of one or more chromosomes. It leads to variation in number of chromosome
Aneuploidy is invariably associated with poor proliferation of primary cells, but the specific contributions of abnormal karyotypes to cancer, a disease characterized by aneuploidy and dysregulated proliferation, remain unclear. In this study, I demonstrate that the transcriptional alterations caused by aneuploidy in primary cells are also present in chromosomally unstable cancer cell lines, but the same alterations are not common to all aneuploid cancers. Chromosomally unstable cancer lines and aneuploid primary cells also share an increase in glycolytic and TCA cycle flux. The biological response to aneuploidy is associated with cellular stress and slow proliferation, and a 70-gene signature derived from primary aneuploid cells was defined as a strong predictor of increased survival in several cancers. Inversely, a transcriptional signature derived from clonal aneuploidy in tumors correlated with high mitotic activity and poor prognosis. Together, these findings suggested that there are two ...
Recombination between loxP sites with the same orientation in trans can generate ES cells with a deficiency accompanied by a duplication, regardless of the relative orientation of the two cassettes along a chromosome. The recombinant chromosomes will differ slightly, depending on the relative order of the Hprt cassettes. In one case, the chromosome with the deficiency will be tagged with the regenerated Hprt minigene, while the chromosome with the duplication will carry the neomycin- and puromycin-resistance cassettes. If the two cassettes are oppositely oriented, then the chromosome with the deficiency will carry the neomycin- and puromycin-resistance genes, and the chromosome with the duplication will carry the Hprt minigene.. The recombination frequency between loxP sites on the same chromosome appears to decrease as the distance between the loxP sites increases (Table 2). Similar observations have been reported in experiments in D. melanogaster using the FLP-FRT system (Golic and Golic ...
The main objective ofthis study was to determine the presence and level of mosaicism for chromosomal aneuploidy in several cases of fetal demise that had previous indications of chromosome aberrations. The presence of aneuploidy was determined using fluorescence in situ hybridization (FISH) probes. Techniques that were utilized in attempts to prepare several tissue types for FISH are described. The analyses made with FISH provided useful data on the chromosomal makeup oftwo of the cases studied. In one case FISH results showed that the product of conception (POC) did not contain the trisomy 18 that is present at low levels in the mothers blood cells. In the other case the miscarried fetus was previously identified as being mosaic for trisomy X. In this research project the presence ofvarying levels of trisomy X in both embryonic and placental tissue was ...
Egg infertility is a predisposition to miscarriages, infertility, and trisomic pregnancies caused by increased frequency of chromosome segregation errors in the eggs of women of advanced maternal age (AMA). Egg infertility is now a significant public health issue, with 1 in 5 US women now attempting her first pregnancy after age 35. Increased rates of egg infertility temporally coincide with rising levels of FSH that occur with age. By age 42, up to 87% of embryos are aneuploid, and 40-50% of women experience egg infertility. An Introductory Editorial will present an overview of causative factors and potential therapeutic strategies to prevent egg aneuploidy and infertility. Papers in series will be comprised of data drawn from studies performed both in animals and in humans. Part I will discuss endocrine and other molecular changes implicated in the pathogenesis of AMA oocyte aneuploidy and infertility. Section 1 will discuss defects that emerge with age in controlling the fidelity of meiotic oocyte
Mouse models of CIN. The most extensive evaluation of the role of aneuploidy in tumour formation stems from the analysis of mouse models with conditional or hypomorphic mutations in mitotic checkpoint genes [[10],[12],[14],[111],[112],[133],[134],[135],[136]]. Complete inactivation of the checkpoint early in embryogenesis leads to embryonic lethality, underscoring the essential role of the checkpoint in organism development. However, genetically engineered mice with an attenuated mitotic checkpoint are viable and display CIN and increased levels of aneuploidy in cells and tissues [[10],[12],[14],[111],[112],[133],[136],[137],[138],[139]]. Notably, as these animal models induce aneuploidy through continued CIN, the effect of aneuploidy in tumour development independently of CIN cannot be assessed. Several of these mice have increased spontaneous tumorigenesis, strongly supporting that CIN increases the probability of tumour formation ([[10],[110],[133],[139]]; for extensive reviews of the types ...
Read Aneuploidy frequency in sperm of fertile men, Russian Journal of Genetics on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
This is a prospective, single-institution observational study to be conducted at 4 clinics within the Southern California Permanente Medical Group. Pregnant women who present for prenatal genetic counseling at the designated clinics and who meet study eligibility criteria will be offered the option of the verifi® prenatal test by a trained, licensed and certified genetic counselor (GC) . Women who elect the verifi® prenatal test will have a blood sample drawn by peripheral venipuncture that will be sent to the Verinata Health CAP-accredited clinical laboratory (Redwood City, CA). Results will be reported to the ordering health care provider by the laboratory within 8-10 business days and will be shared with the subject by their provider. Subject care and decision-making following NIPT result will be clinically managed by the provider with his/her subject and is not dictated by the study protocol. All eligible women who provide informed consent, whether they elect or decline NIPT will be asked ...
The primary outcome of this study is the false positive rate of fetal aneuploidy detection for chromosome 21, 18, and 13 by the Verinata Health Prenatal Aneuploidy Test and screen positive rate for fetal trisomy (T21) and trisomy (T18) by conventional prenatal screening methods. Birth outcomes, or karyotype if available, will be used as the reference standard ...
Frequency and distribution of chromosome abnormalities in human oocytes[10] It was previously shown that more than half of the human oocytes obtained from IVF patients of advanced reproductive age are aneuploid, due to meiosis I and meiosis II errors. The present paper further confirms that 61.8% of the oocytes tested by fluorescent probes specific for chromosomes 13, 16, 18, 21 and 22 are abnormal, representing predominantly chromatid errors, which are the major source of aneuploidy in the resulting embryos. Almost half of the oocytes with meiosis I errors (49.3%) are prone to sequential meiosis II errors, which may lead to aneuploidy rescue in 30.8% of the cases. Half of the detected aneuploidies (49.8%) are of complex nature with involvement of two or more chromosomes, or the same chromosome in both meiotic divisions. The aneuploidy rates for individual chromosomes are different, with a higher prevalence of chromosome 21 and 22 errors. The origin of aneuploidy for the individual chromosomes ...
Frequency and distribution of chromosome abnormalities in human oocytes[10] It was previously shown that more than half of the human oocytes obtained from IVF patients of advanced reproductive age are aneuploid, due to meiosis I and meiosis II errors. The present paper further confirms that 61.8% of the oocytes tested by fluorescent probes specific for chromosomes 13, 16, 18, 21 and 22 are abnormal, representing predominantly chromatid errors, which are the major source of aneuploidy in the resulting embryos. Almost half of the oocytes with meiosis I errors (49.3%) are prone to sequential meiosis II errors, which may lead to aneuploidy rescue in 30.8% of the cases. Half of the detected aneuploidies (49.8%) are of complex nature with involvement of two or more chromosomes, or the same chromosome in both meiotic divisions. The aneuploidy rates for individual chromosomes are different, with a higher prevalence of chromosome 21 and 22 errors. The origin of aneuploidy for the individual chromosomes ...
The Society for Maternal-Fetal Medicine advises against ordering serum aneuploidy screening after cfDNA aneuploidy screening has already been performed.
Chromosomal abnormalities are seen in nearly 1% of live born infants. We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic analysis showed a mosaicism for a double aneuploidy,
As women age, they have a larger chance of abnormal number of chromosomes (aneuploidy), leading to infertility, miscarriages and abnormal fetal conditions.
The cell cycle is a complex sequence of events through which a cell duplicates its contents and divides, and involves many regulatory proteins for proper cellular reproduction, including cyclin proteins and cyclin-dependent kinases, oncogenes and tumor-suppressor genes, and mitotic checkpoint protei …
1. Aneuploidy as the cause of cancer Cancer cells differ from normal in specific genotypes and phenotypes. The most common and massive cancer-specific genotype is aneuploidy, an abnormal number of chromosomes. The cancer-specific phenotypes include 1) dedifferentiation, 2) ability to metastasize, 3) constitutive genetic instability, 4) neoantigens, 5) metabolism, and 6) morphology. These cancer-specific properties are currently all interpreted as consequences of gene mutations. However, mutated genes do not typically generate new phenotypes, nor do mutated genes from cancer cells generate aneuploidy or transform diploid human or animal cells into cancer cells. In view of this we re-investigated the 100 year old hypothesis, that aneuploidy causes cancer. Confirming the aneuploidy hypothesis we have found, that each of 44 chemically transformed Chinese hamster cell colonies was aneuploid and all those tested were tumorigenic (Li et al., 1997). We propose that aneuploidy alters the cell - like ...
It has been known for more than half a century that the risk of conceiving a child with trisomy increases with advanced maternal age However the origin of the high susceptibility to nondisjunction of whole chromosomes and precocious separation of sister chromatids leading to aneuploidy in aged oocytes and embryos derived from them cannot be traced back to a single disturbance and mechanism Instead analysis of recombination patterns of meiotic chromosomes of spread oocytes from embryonal ovary and of origins and exchange patterns of extra chromosomes in trisomies as well as morphological and molecular studies of oocytes and somatic cells from young and aged females show chromosome specific risk patterns and cellular aberrations related to the chronological age of the female In addition analysis of the function of meiotic and cell cycle regulating genes in oogenesis and the study of the spindle and chromosomal status of maturing oocytes suggest that several events contribute synergistically to ...
Many cancers have extremely high rates of chromosomal instability (CIN). Some cancers have chromosome segregation errors in every cell division, which would be detrimental to the growth of normal cells. Little is known about how cancers are able to thrive with high levels of CIN. We aim to determine how cells evolve to cope with CIN by creating a model system for persistent chromosomal instability in budding yeast. What types of mutations allow cells to adapt to a constantly shifting genomic content? What are the direct effects of CIN and aneuploidy on the health and viability of cells? close ...
The advances in reproductive medicine have been many. As the New Year begins, here are FertilityAuthoritys four trends you should watch. Genetic screening of embryos for aneuploidy. A normal embryo has 23 pairs of chromosomes, including an XX or an XY to determine sex. Aneuploidy is the term used to describe an abnormal number of chromosomes, and majority of embryos with aneuploidy will not implant in the uterus or will result in a miscarriage. Many fertility clinics are now offering preimplantation genetic screening (PGS) for aneuploidy. One method that is gaining much attention is called comprehensive chromosomal analysis (CCS) tests a Day 5 or 6 embryo that is subsequently frozen and transferred during a frozen cycle. Women who have experienced recurrent miscarriages or recurrent IVF failure, or those who are of advanced maternal age, may want to ask their fertility doctors about PGS or CCS for aneuploidy screening.
Most human tumors have abnormal numbers of chromosomes, a condition known as aneuploidy. The mitotic checkpoint is an important mechanism that prevents aneuploidy by restraining the activity of the anaphase-promoting complex (APC). The deubiquitinase USP44 was identified as a key regulator of APC activation; however, the physiological importance of USP44 and its impact on cancer biology are unknown. To clarify the role of USP44 in mitosis, we engineered a mouse lacking Usp44. We found that USP44 regulated the mitotic checkpoint and prevented chromosome lagging. Mice lacking Usp44 were prone to the development of spontaneous tumors, particularly in the lungs. Additionally, USP44 was frequently downregulated in human lung cancer, and low expression correlated with a poor prognosis. USP44 inhibited chromosome segregation errors independent of its role in the mitotic checkpoint by regulating centrosome separation, positioning, and mitotic spindle geometry. These functions required direct binding to ...
Theres a chromosome that got lost and ended up in the wrong cell. That is how chromosome instability results in aneuploidy. Aneuploidy means that cells have the wrong number of chromosomes. A well-known form of aneuploidy is Down Syndrome, where patients have an extra copy of chromosome 21 in all of their cells.. Trained as a biotechnologist and process engineer at Wageningen University, Foijer developed a keen interest in medical research. This led to a PhD project at the Netherlands Cancer Institute NKI in Amsterdam. There I discovered a control mechanism, a sort of emergency brake to stop cell division. But the mechanism came at a price: when these cells started dividing again, they were susceptible to chromosome instability, a failure to maintain the correct number of chromosomes.. Aneuploidy probably predisposes cancer. Two thirds of cancer cells show chromosome instability resulting in aneuploidy. Aneuploidy probably predisposes cells to cancer. But not all cells with the wrong number ...
STUDY QUESTION: Can next-generation sequencing (NGS) techniques be used reliably for comprehensive aneuploidy screening of human embryos from patients undergoing IVF treatments, with the purpose of identifying and selecting chromosomally normal embryos for transfer?. SUMMARY ANSWER: Extensive application of NGS in clinical preimplantation genetic screening (PGS) cycles demonstrates that this methodology is reliable, allowing identification and transfer of euploid embryos resulting in ongoing pregnancies.. WHAT IS KNOWN ALREADY: The effectiveness of PGS is dependent upon the biology of the early embryo and the limitations of the technology. Fluorescence in situ hybridization, used to test for a few chromosomes, has largely been superseded by microarray techniques that test all 24 chromosomes. Array comparative genomic hybridization (array-CGH) has been demonstrated to be an accurate PGS method and has become the de facto gold standard, but new techniques, such as NGS, continue to emerge.. STUDY ...
Background: Aneuploidy, or abnormal chromosome numbers, severely alters cell physiology and is widespread in cancers and other pathologies. Using model cell lines engineered to carry one or more extra chromosomes, it has been demonstrated that aneuploidy per se impairs proliferation, leads to proteotoxic as well as replication stress and triggers conserved transcriptome and proteome changes. Results: In this study, we analysed for the first time miRNAs and demonstrate that their expression is altered in response to chromosome gain. The miRNA deregulation is independent of the identity of the extra chromosome and specific to individual cell lines. By cross-omics analysis we demonstrate that although the deregulated miRNAs differ among individual aneuploid cell lines, their known targets are predominantly associated with cell development, growth and proliferation, pathways known to be inhibited in response to chromosome gain. Indeed, we show that up to 72% of these targets are downregulated and ...
Background: Aneuploidy, or abnormal chromosome numbers, severely alters cell physiology and is widespread in cancers and other pathologies. Using model cell lines engineered to carry one or more extra chromosomes, it has been demonstrated that aneuploidy per se impairs proliferation, leads to proteotoxic as well as replication stress and triggers conserved transcriptome and proteome changes. Results: In this study, we analysed for the first time miRNAs and demonstrate that their expression is altered in response to chromosome gain. The miRNA deregulation is independent of the identity of the extra chromosome and specific to individual cell lines. By cross-omics analysis we demonstrate that although the deregulated miRNAs differ among individual aneuploid cell lines, their known targets are predominantly associated with cell development, growth and proliferation, pathways known to be inhibited in response to chromosome gain. Indeed, we show that up to 72% of these targets are downregulated and ...
The study, which has also involved the collaboration of ICREA researcher Angel R. Nebreda, in the Oncologys programme at the same institute, explains how the molecular and cellular mechanisms triggered by aneuploid cells can give rise to tumours.. The research on aneuploidy and tumorigenesis has been performed using the wing primordia of the fruit fly Drosophila melanogaster as a model. This tissue is an epithelium organised into a single layer and that grows by 20 to 30,000 cells in a few days. Given these features, this tissue is an ideal system in which to generate genomic instability and to dissect the cell and molecular mechanisms that elicit aneuploid cells in a proliferating tissue.. Aneuploid cells: first step, suicide. The team of researchers observed that aneuploid cells first activate apoptosis (or programmed cell suicide). At the same time, in an attempt to counteract the imminent loss of cells, they send signals to neighbouring ones instructing them to divide and proliferate ...
InteGens Multiplex Interphase Chromosome Profiling products for Pre/Post-natal detect all common aneuploidies - 13, 18, 21, X and Y along with the option to detect all chromosomes and all common microdeletions. Whereas most prenatal diagnostic tests require an invasive procedure (CVS or amniocentesis), our FISH probes can be used on intact isolated/enriched fetal cells found in the mothers blood. This is made possible by our partner labs technology, which can recover 44 fetal cells from as little as 2ml of blood. This allows for a non-invasive blood test without putting the pregnancy at risk for miscarriage.. Most clinical labs that perform noninvasive prenatal testing (NIPT) test for all common aneuploidies (13, 18, 21, X and Y) and some claim they can test for the ten common microdeletions. However, if they find a positive result, labs must then provide further confirmation by invasive procedure. Combining our partners fetal cell isolation technology with InteGens innovative probes, labs ...
MIT cancer researchers have discovered a process that may explain how some tumor cells form, a discovery that could one day lead to new therapies that prevent defective cells from growing and spreading.. The work was reported June 8 in the advance online issue of The EMBO Journal, a publication of the European Molecular Biology Organization (EMBO).. Tumor cells that grow aggressively often have an irregular number of chromosomes, the structures in cells that carry genetic information. The normal number of chromosomes in a human cell is 46, or 23 pairs. Aggressive tumor cells often have fewer or more than 23 pairs of chromosomes, a condition called aneuploidy. To date it has not been clear how tumor cells become aneuploid. Checkpoint proteins within cells work to prevent cells from dividing with an abnormal number of chromosomes, but scientists have been puzzled by evidence that aneuploidy can result even when these proteins appear to be normal. What MIT researchers have discovered is a reason ...
Aneuploidy, the unbalanced state of the chromosome content, represents a hallmark of most solid tumors. Such aneuploidies result in tumor specific genomic imbalances, which emerge in premalignant precursor lesions. Moreover, increasing levels of chromosomal instability have been observed in adenocarcinomas and are maintained in distant metastases. A number of studies have systematically integrated copy number alterations with gene expression changes in primary carcinomas, cell lines, and experimental models of aneuploidy. In fact, chromosomal aneuploidies target a number of genes conferring a selective advantage for the metabolism of the cancer cell. Copy number alterations not only have a positive correlation with expression changes of the majority of genes on the altered genomic segment, but also have effects on the transcriptional levels of genes genome-wide. Finally, copy number alterations have been associated with disease outcome; nevertheless, the translational applicability in clinical ...
UniSA researchers at the Centre for Cancer Biology (CCB) have discovered a new aspect of cancer biology that may help to battle the spread and growth of tumours.. The research focuses on aneuploid cells, which are often associated with abnormal chromosome content and cell division - and how an enzyme known as caspase-2, initially discovered by the lead researcher 25 years ago, can act to prevent their growth.. Research leaders, Professor Sharad Kumar and Dr Loretta Dorstyn with PhD student Swati Dawar, have discovered that caspase-2, which is found in all mammals, has the capacity to suppress cancer growth by working to destroy aneuploid cells.. Aneuploidy is a term that describes the abnormal chromosome content of a cell and occurs when there are failings during the normal division of a cell, Prof Kumar says.. Aneuploidy is a feature of the majority of human tumours and is known to lead to chromosomal instability that can promote cancer onset and progression and cause drug ...
Defective segregation of chromosomes during cell division causes aneuploidy and is a characteristic feature of cancer cells. Cells therefore utilize multiple mechanisms to ensure faithful segregation and prevent aneuploidy, including phospho-regulation of proteins responsible for separating replicated chromosomes during mitosis. These mechanisms depend on the essential, conserved protein kinase Mps1. The goal of my work is to identify the downstream effectors of Mps1 in chromosome segregation and to illuminate the mechanisms of Mps1 function. This work will combine novel biochemical and cell biological approaches with emerging structural analysis methods to improve fundamental understanding of phospho-regulation of chromosome segregation.. ...
We have demonstrated that DANSR enables efficient and selective evaluation of cfDNA from maternal blood for fetal aneuploidy. We analyzed 298 plasma samples from pregnant women, including 39 T21 and seven T18 cases. Previous studies with MPSS have used a Z statistic cut-off of three standard deviations to classify cases as aneuploid or euploid.[7, 9] Using a similar statistical analysis, we correctly distinguished all aneuploid cases from average-risk cases using as few as 420 000 reads per sample.. Digital analysis of selected regions has several advantages compared with MPSS as an assay for aneuploidy. First, the fraction of raw sequencing reads that map to expected loci exceeds 96% with DANSR; by contrast, studies using MPSS report mapping rates of 20% to 50%.[7, 8] Second, DANSR produces sequence data only from chromosomes of clinical interest; by contrast, MPSS produces data from all chromosomes, irrespective of their relevance to analysis of aneuploidy. Taken together, the DANSR advantages ...
Aneuploidy. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
The DNA microarray is a molecular genetic technique uses nucleic acid hybridization principle for gene expression studies, identification of genotype and mutations associated with the disease. After the discovery of…. ...
22q Moms...you are in need of some major relaxation and time for YOU. We are so excited to offer the first The 22q Family Foundation Moms Retreat: Finding YOU in the Midst of 22q. We will gather at the Spirit in the Desert Retreat Center in... ...
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. 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 ...
In 1974, Segal and McCoy reported that primary foreskin fibroblasts of trisomy 21 patients proliferate more slowly than euploid control cells ( 6). Similar results were obtained from studies of primary mouse cells ( 7) or human cell lines ( 8) with decreased chromosome segregation fidelity. We set out to characterize the effects of a single extra chromosome on cell growth and proliferation in a systematic manner. This approach not only enabled us to determine whether every chromosome when present in an extra copy interferes with proliferation, but also allowed us to determine whether a general response to aneuploidy exists.. We established MEFs trisomic for either chromosome 1, 13, 16, or 19 using mice with balanced Robertsonian translocations. Analysis of the cell lines established from these aneuploid embryos revealed that cell proliferation was hampered in all trisomic MEFs compared with euploid controls. Furthermore, the characterization of the trisomic MEFs revealed a number of shared ...
Caspase-2, one of the most conserved of the caspase family members evolutionarily, provides been suggested as a factor in maintenance of chromosomal tumour and balance reductions. can either arise from different structural lesions, such simply because mutations, chromosomal translocations or deletions, or can result from statistical changes where cells lose or gain copies of entire chromosomes (aneuploidy).3 NVP-BEP800 As the most common chromosome abnormality in individuals, aneuploidy is the most common chromosome abnormality in individuals, is the trigger of many congenital delivery flaws and is found in the majority of good tumours.4 It is also regarded a key underlying factor to tumor onset and treatment. Aneuploidy occurs from extravagant mitotic occasions, including problems in centrosome quantity, kinetochore-microtubule accessories, spindle-assembly gate (SAC), chromosome telomeres or cohesion. 4 Aberrant mitotic police arrest systems normally result in cell loss of life by apoptosis, ...
Cytogenetic studies were performed in 95 adults with acute leukemia, 39 (41%) of whom had abnormal karyotypes in their leukemic cells. The karyotypes were grouped according to the Denver-Chicago classification, and abnormalities were correlated with clinical variables. The frequency and quality of abnormality was not influenced by age, morphologic type of leukemia, or prior treatment. The frequency of abnormal karyotypes was increased in patients with increasing leukocytosis. Hypodiploidy adversely affected response to treatment and survival. D or E group chromosome deletions were associated with a decreased response to treatment and survival, whereas patients with extra D or E chromosomes had an improved prognosis. The overall distribution of chromosomal abnormalities in the leukemic cells deviated significantly from the expected for random distribution. D+, E+, and G- abnormalities were significantly more frequent than expected. Patients with marrow leukemic cell aneuploidy showed a loss of ...
Most solid tumors are aneuploid, having a chromosome number that is not a multiple of the haploid number, and many frequently mis-segregate whole chromosomes ...
If you are a society or association member and require assistance with obtaining online access instructions please contact our Journal Customer Services team ...
DI-fusion, le Dépôt institutionnel numérique de lULB, est loutil de référencementde la production scientifique de lULB.Linterface de recherche DI-fusion permet de consulter les publications des chercheurs de lULB et les thèses qui y ont été défendues.
If you have a question about this talk, please contact Kathy Oswald.. Hosts: Phil Zegerman & Meri Huch. Abstract not available. This talk is part of the Gurdon Institute Seminar Series series.. ...
Genetic analyses reveal that purely quantitative changes in the relative copy number of chromosomes can be sufficient to disrupt the epigenetic mechanisms that define the cells differentiated state.
Every OncoDNA last news are listed in this page. This page is frequently enriched by new news tagged by EVENT, SCIENTIFIC, NEWS or PR keywords.
Dear Professor Winston, I would like some advice on a rare condition that I have been recently diagnosed with. I am in my mid-20s and have never experienced periods; there is no bleeding but I still get all other symptoms. I have always been very slim so the lack of periods was put down to my being underweight. After a considerable. Read More ...
Low levels of anti-Müllerian hormone in combination with an elevated day 2-3 follicle-stimulating hormone is associated with a high rate of aneuploid embryos.
In the pre-implantation embryo, aneuploidy resulting from chromosome segregation error is considered responsible for pregnancy loss. However, only a few studies have examined the relationship between chromosome segregation errors during early cleavage and development. Here, we evaluated this relationship by live-cell imaging using the histone H2B-mCherry probe and subsequent single blastocyst transfer using mouse embryos obtained by in vitro fertilization. We showed that some embryos exhibiting early chromosomal segregation error and formation of micronuclei retained their developmental potential; however, the error affected the blastocyst/arrest ratio. Further, single-cell sequencing after live-cell imaging revealed that all embryos exhibiting micronuclei formation during 1st mitosis showed aneuploidy at the 2-cell stage. These results suggest that early chromosome segregation error causing micronuclei formation affects ploidy and development to blastocyst but does not necessarily cause developmental
The cognitive deficits present in individuals with sex chromosome aneuploidies suggest that hemispheric differentiation of function is determined by an X-Y homologous gene [Crow (1993); Lancet 342:594-598]. In particular, females with Turners syndrome (TS) who have only one X-chromosome exhibit deficits of spatial ability whereas males with Klinefelters syndrome (KS) who possess a supernumerary X-chromosome are delayed in acquiring words. Since spatial and verbal abilities are generally associated with right and left hemispheric function, such deficits may relate to anomalies of cerebral asymmetry. We therefore applied a novel image analysis technique to investigate the relationship between sex chromosome dosage and structural brain asymmetry. Specifically, we tested Crows prediction that the magnitude of the brain torque (i.e., a combination of rightward frontal and leftward occipital asymmetry) would, as a function of sex chromosome dosage, be respectively decreased in TS women and increased in KS
RESULTS. Fluorescence in-situ hybridisation detected 558 (9.5%) patients with chromosomal abnormalities. Abnormal ultrasounds (70%) and maternal serum screens (21%) were the most indicative of chromosomal abnormalities. When comparing fluorescence in-situ hybridisation data with karyotype results for the five chromosomes of interest, the sensitivity and specificity were 99.3% and 99.9%, respectively. When comparing fluorescence in-situ hybridisation data with karyotype results for all chromosomes, the sensitivity decreased to 86.8%, whereas the specificity remained at 99.9%. Of 643 cases with karyotype abnormalities, 85 were fluorescence in-situ hybridisation-negative (false negative rate, 13.2%), which included structural rearrangements, chromosome mosaicism, and other trisomies. Despite abnormal ultrasound indications, fluorescence in-situ hybridisation missed 32 cases which included structural rearrangements, mosaicisms, and other trisomies ...
TY - JOUR. T1 - Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain. AU - Andriani, Grasiella A.. AU - Vijg, Jan. AU - Montagna, Cristina. N1 - Funding Information: C.M. and J.V. work is partially supported by grants from the National Institutes of Health [AG017242 to J.V] and from the Albert Einstein Cancer Center Support Grant of the National Institutes of Health [P30CA013330]. Publisher Copyright: © 2016 Copyright: Copyright 2017 Elsevier B.V., All rights reserved.. PY - 2017/1/1. Y1 - 2017/1/1. N2 - Aneuploidy and polyploidy are a form of Genomic Instability (GIN) known as Chromosomal Instability (CIN) characterized by sporadic abnormalities in chromosome copy numbers. Aneuploidy is commonly linked to pathological states. It is a hallmark of spontaneous abortions and birth defects and it is observed virtually in every human tumor, therefore being generally regarded as detrimental for the development or the maturation of tissues under physiological ...
TY - JOUR. T1 - Rapid detection of aneuploidy following the generation of mutants in Candida albicans. AU - Lenardon, Megan D. AU - Nantel, André. PY - 2012. Y1 - 2012. N2 - Techniques used to generate mutants in Candida albicans commonly result in additional and undesired genetic rearrangements. Detection of aneuploidy is, therefore, an important step forward in the quality control of mutant phenotypes. In this chapter, we describe how to extract genomic DNA and perform a quantitative multiplex PCR to compare the karyotype of any mutant strain to that of its parent and allow the detection of any unwanted aneuploidy.. AB - Techniques used to generate mutants in Candida albicans commonly result in additional and undesired genetic rearrangements. Detection of aneuploidy is, therefore, an important step forward in the quality control of mutant phenotypes. In this chapter, we describe how to extract genomic DNA and perform a quantitative multiplex PCR to compare the karyotype of any mutant strain ...
Chromosomal aneuploidy is a common cause of birth defects. Unfortunately, the diagnostic sensitivity and specificity of current screening programs for fetal chromosomal aneuploidy have been unsatisfactory (1). The discovery of cell-free fetal DNA in maternal plasma (2) has led to the introduction of a new method of noninvasive fetal aneuploidy detection that uses next-generation sequencing (3-5). This method has been tested widely in clinical applications in recent years (6-8).. The current next-generation sequencing platforms have several weaknesses, however, and these limitations need to be addressed before these platforms can be used in routine clinical applications. These weaknesses include poor sample scalability, high cost, and a long sequencing time (2 to 3 days). A new benchtop sequencing instrument developed by Ion Torrent (owned by Life Technologies), based on semiconductor sequencing technology, can solve many of these problems (9, 10). The Ion Torrent Personal Genome Machine (PGM),6 ...
TY - JOUR. T1 - Whole chromosome aneuploidy in the brain of Bub1bH/H and Ercc1-/Δ7 mice. AU - Andriani, Grasiella A.. AU - Faggioli, Francesca. AU - Baker, Darren. AU - Dollé, Martijn E.T.. AU - Sellers, Rani S.. AU - Hébert, Jean M.. AU - Van Steeg, Harry. AU - Hoeijmakers, Jan. AU - Vijg, Jan. AU - Montagna, Cristina. N1 - Funding Information: We thank the Molecular Cytogenetic Core at Albert Einstein College of Medicine for help with the FISH analysis and the Histology and Comparative Pathology Facility at Albert Einstein College of Medicine for help with the localization of the developing cortex in E13.5 embryo sections, IHC and analysis for cleaved-Casp3 and SA-?-gal staining scoring. This work was supported by grants from the National Institutes of Health [AG17242 to J.V., MH070596 and NS088943 to J.H., P30CA013330 to R.S.S. and C.M. (Albert Einstein Cancer Center grant)]. Part of this work was supported by funds from the Glenn Foundation for Medical Research.. PY - 2016/2/15. Y1 - ...
Aneuploidy is the gain or loss of individual chromosomes from the normal diploid set of forty-six chromosomes. As in structural anomalies, the error may be present in all cells of a person or in a percentage of cells. Changes in chromosome number generally have an even greater effect upon survival than changes in chromosome structure. Considered the most common type of clinically significant chromosome abnormality, it is always associated with physical and/or mental developmental problems. Most aneuploid patients have a trisomy of a particular chromosome. Monosomy, or the loss of a chromosome, is rarely seen in live births. The vast majority of monosomic embryos and fetuses are probably lost to spontaneous abortion during the very early stages of pregnancy. An exception is the loss of an X chromosome, which produces Turners syndrome. Trisomy may exist for any chromosome, but is rarely compatible with life.. Aneuploidy is believed to arise from a process called nondisjunction. Nondisjunction ...
Ulcerative colitis is a chronic inflammatory disease that mainly affects the colon and rectum. Onset of disease is most common between the ages of 15-35 years. There is an observed increased risk of colorectal cancer associated with the disease. The risk is often described to be 2% after 10 years, 8% after 20 years and 18% after 30 years disease.. Since 1977, all known patients with ulcerative colitis in the catchment area of Örnsköldsvik Hospital have been invited to attend a colonoscopic surveillance programme. At endpoint of the studies included in this thesis there were 214 patients that had attended the surveillance programme. The aims of these studies have been to evaluate the efficiency of the surveillance programme, analyse the impact of findings of DNA aneuploidy, and determine the outcome for patients that underwent limited resections instead of complete proctocolectomy. Further, we have studied the long-term outcome for patients who had an early onset of disease and analysed the ...
TY - JOUR. T1 - Reduced Chromosome Cohesion Measured by Interkinetochore Distance is Associated with Aneuploidy Even in Oocytes from Young Mice. AU - Merriman, Julie A.. AU - Lane, Simon I.R.. AU - Holt, Janet E.. AU - Jennings, Phoebe C.. AU - García-Higuera, Irene. AU - Moreno, Sergio. AU - McLaughlin, Eileen A.. AU - Jones, Keith T.. PY - 2013/2/1. Y1 - 2013/2/1. N2 - It is becoming clear that reduced chromosome cohesion is an important factor in the rise of maternal age-related aneuploidy. This reduction in cohesion has been observed both in human and mouse oocytes, and it can be measured directly by an increase with respect to maternal age in interkinetochore (iKT) distance between a sister chromatid pair. We have observed variations in iKT distance even in oocytes from young mice and wondered if such differences may predispose those oocytes displaying the greatest iKT distances to be becoming aneuploid. Therefore, we used two methods, one pharmacological (Aurora kinase inhibitor) and one ...
Many cancers have extremely high rates of chromosomal instability (CIN). Some cancers have chromosome segregation errors in every cell division, which would be detrimental to the growth of normal cells. Little is known about how cancers are able to thrive with high levels of CIN. We aim to determine how cells evolve to cope with CIN by creating a model system for persistent chromosomal instability in budding yeast. What types of mutations allow cells to adapt to a constantly shifting genomic content? What are the direct effects of CIN and aneuploidy on the health and viability of cells?. ...
Aneuploidy has been recognized as a hallmark of cancer for more than 100 years, yet no general theory has emerged to explain the recurring patterns of aneuploidy in cancer. Dr. Elledges laboratory developed the Tumor Suppressor and Oncogene (TUSON) Explorer, a computational method that analyzes the patterns of mutational signatures in tumors and predicts the likelihood that any individual gene functions as a tumor suppressor gene (TSG) or an oncogene (OG).
DNA aneuploidy has been identified as a prognostic factor for epithelial malignancies. Further understanding of the translation of DNA aneuploidy into protein expression will help to define novel biomarkers to improve therapies and prognosis. DNA ploidy was assessed by image cytometry. Comparison of gel-electrophoresis-based protein expression patterns of three diploid and four aneuploid colorectal cancer cell lines detected 64 ploidy-associated proteins. Proteins were identified by mass spectrometry and subjected to Ingenuity Pathway Analysis resulting in two overlapping high-ranked networks maintaining Cellular Assembly and Organization, Cell Cycle, and Cellular Growth and Proliferation. CAPZA1, TXNL1, and HDAC2 were significantly validated by Western blotting in cell lines and the latter two showed expression differences also in clinical samples using a tissue microarray of normal mucosa (n=19), diploid (n=31), and aneuploid (n=47) carcinomas. The results suggest that distinct protein ...
Background and goals: DNA ploidy abnormalities (aneuploidy/tetraploidy) measured by stream cytometry (FC) are strong predictors of potential cancer advancement in neglected Barretts oesophagus, separate of histology quality. intramucosal cancers. From the oesophagectomy specimens, 25 acquired invasive adenocarcinoma. An additional seven blocks of cancer-free 367514-87-2 margins (six squamous oesophagus, one End up being) were utilized as controls. Picture cytometry Preparation from the monolayer Two 40?(1983). The areas had been dewaxed in xylene Quickly, rehydrated within a stage group of ethanol solutions steadily, and digested using proteinase XXIV (Sigma-Aldrich, Dorset, UK) 2.5?mg for 2?h in 37C. The test was cleaned in phosphate-buffered saline (PBS), filtered though 40?ICDA A complete of 44 examples from 31 sufferers were analysed successfully, and 93% (41 out of 44) were classified identically between your two centres. All seven handles had been 367514-87-2 diploid at both centres. From ...
Looking for Chromosomal mosaicism? Find out information about Chromosomal mosaicism. The coexistence of two or more genetically distinct cell populations derived originally from a single zygote. Mosaics may arise at any stage of development,... Explanation of Chromosomal mosaicism
If you have a question about this talk, please contact Elizabeth Harrington.. Abstract not available. This talk is part of the CTR (Centre for Trophoblast Research) Seminar Series series.. ...
Since different chromosomes showed varying degrees of gain or loss in the T-ALLs (Fig. 3d-h and Additional file 9: Figure S6b, c), we wondered whether calculating the aneuploidy and heterogeneity scores for individual chromosomes would reveal whether specific chromosomes more often showed changes in copy number than others. To this end, we plotted both scores per chromosome for all samples that were analysed by single-cell sequencing. For the control thymus, all chromosomes clustered together in the bottom left, indicating that none of the cells displayed chromosome copy number alterations (Fig. 4b, control thymus). In contrast, in the tumours we identified three types of chromosomes: (1) chromosomes that were (virtually) never lost or gained (Fig. 4b, green chromosomes in T260 and T158), presumably due to lethality associated with such gain/loss events; (2) chromosomes that show a high heterogeneity rate, but low aneuploidy rate, for which copy number changes are presumably not selected for ...
Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Preimplantation genetic testing for aneuploidy is a valid therapeutic option in patients with mosaic Turner Syndrome using their own oocytes and oocyte donation should not necessarily be recommended directly as the treatment of choice.
VARGAS I, Paula et al. Resultado de estudio prenatal invasivo para el diagnóstico de aneuploidía en el Hospital Sótero del Río. Rev. chil. obstet. ginecol. [online]. 2016, vol.81, n.2, pp.94-98. ISSN 0717-7526. http://dx.doi.org/10.4067/S0717-75262016000200002.. Background: Malformations and aneuploidy are a major cause of perinatal morbidity and mortality in Chile. Invasive techniques are offered to determine the fetal karyotype, when there is an abnormal finding in the ultrasound. Aims: To assess the local situation of prenatal genetic diagnosis to improve the management of this population. Methods: This is a retrospective and descriptive study of patients from october 2010 to march 2015, who had an amniocentesis for genetic testing due suspected fetal malformations or aneu-ploidy. Results: The sonographic findings most frequently found were: congenital heart disease, malformations of the central nervous system and early growth restrictions. 164 patients agree to perform invasive prenatal ...
Listen to ASRM Today - Document Review: Clinical Management Of Mosaic Results From Preimplantation Genetic Testing For Aneuploidy (PGT-A) Of Blastocysts: A Committee Opinion With Emily Mounts and seventy-two more episodes by ASRM Today Podcast, free! No signup or install needed. ASRM Today: All to Know for Advocacy Day 2021. ASRM Today: Global Day of Parents with Jake Anderson of Fertility IQ.
Fingerprint Dive into the research topics of Quantitative fluorescence polymerase chain reaction (QF-PCR) for prenatal diagnosis of chromosomal aneuploidies. Together they form a unique fingerprint. ...
Ernest, B. Hook, 1985: Aneuploidy. Bond DJ, Chandley AC, (Oxford Monographs on Medical Genetics No. 11). Oxford and New York: Oxford University Press, 1983
Some forms of Down Syndrome are however heritable, as shown above. In the germline of an asymptomatic individual, reciprocal translocation between the long arms of Chromosomes 14 & 21 results in gametes that carry a large portion of Chromosome 21 on a Chromosome 14 centromere. In combination with a standard gamete from the other parent, this result is a 2n=46 karyotype with a segmental aneuploidy for Chromosome 21, producing Down Syndrome. The karyotype is formally described as 2n = 46, t(14q21q) ...
Prenatal screening is often misconstrued by patients as screening for trisomy 21 alone; however, other chromosomal anomalies are often detected. This study aimed to systematically review the literature and use diagnostic meta-analysis to derive pooled detection and false positive rates for aneuploidies other than trisomy 21 with different prenatal screening tests. Non-invasive prenatal testing had the highest detection (DR) and lowest false positive (FPR) rates for trisomy 13 (DR: 90.3%; FPR: 0.2%), trisomy 18 (DR: 98.1%; FPR: 0.2%), and 45,X (DR: 92.2%; FPR: 0.1%); however, most estimates came from high-risk samples. The first trimester combined test also had high DRs for all conditions studied (trisomy 13 DR: 83.1%; FPR: 4.4%; trisomy 18 DR: 91.9%; FPR: 3.5%; 45,X DR: 70.1%; FPR: 5.4%; triploidy DR: 100%; FPR: 6.3%). Second trimester triple screening had the lowest DRs and highest FPRs for all conditions (trisomy 13 DR: 43.9%; FPR: 8.1%; trisomy 18 DR: 70.5%; FPR: 3.3%; 45,X DR: 77.2%; FPR: 9.3%).
Structural variation in the human genome is likely to be an important mechanism for neuronal diversity and brain disease. A combination of multiple different forms of aneuploid cells due to loss or gain of whole chromosomes giving rise to cellular diversity at the genomic level have been described in neurons of the normal and diseased adult human brain. Here, we describe recent advances in molecular neuropathology based on the combination of slide-based cytometry with molecular biological techniques that will contribute to the understanding of genetic neuronal heterogeneity in the CNS and its potential impact on Alzheimer´s disease and age-related disorders.
A trisomy is the presence of three, instead of the normal two, chromosomes of a particular numbered type in an organism. Thus the presence of an extra chromosome 21 is called trisomy 21. Most trisomies, like most other abnormalities in chromosome number, result in distinctive birth defects. Many trisomies result in miscarriage or death at an early age. A partial trisomy occurs when part of an extra chromosome is attached to one of the other chromosomes. A mosaic trisomy is a condition where extra chromosomal material exists in only some of the organisms cells. While a trisomy can occur with any chromosome, the most common types in humans are: ...
A gain or loss of chromosomes from the normal 46 is called aneuploidy. A common form of aneuploidy is trisomy, or the presence of an extra chromosome in cells. Tri- is Greek for three; people with trisomy have three copies of a particular chromosome in cells instead of the normal two copies ...
Advances in ultrasound technology over recent times, mean that the once controversial area of aneuploidy detection is becoming a popular topic for sonographers worldwide. Improved resolutions from high end machines mean that very subtle anatomic variants may have a part to play in the detection of chromosomal abnormalities. When combined with laboratory testing and risk assessment tools, early detection of these soft markers can provide a rationale for the diagnosis and management of fetal chromosomal defects ...
The US FDA has given Ikonisys clearance to market its automated scanning microscope-based test for prenatal genetic diagnosis. The Ikoniscope fastFISH amnio test system is an in vitro diagnostic for aiding in the detection of the most common chromosomal aneuploidies for chromosomes 21 (Downs syndrome), 18 (Edward syndrome), 13 (Patau syndrome) and for numerical aberrations for sex chromosomes X and Y. The test can provide a result within 24-36 hours. Commenting on the US approval, Ikonisys chairman and CEO Petros Tsipouras said: It will give us the opportunity to market our first product - to the largest market in the world.. ...
In this exclusive interview, Peter Duesberg, PhD, discusses his controversial cancer theory and why the scientific community and the mainstream media are forced to ignore it.. Question: Your recently proposed theory of cancer, based on the notion of abnormal numbers of chromosomes, runs contrary to currently accepted theory of genetic mutation. Can you give a brief overview of the theory for the uneducated reader?. Answer: Briefly, there are two very different mechanisms of mutation, gene mutation for minor adjustments within a species and chromosome number mutation for big dominant changes, good or bad.. All chromosome number mutations, such as the normal ones that determine sex and a new species and the abnormal ones that happen at conception or in rare cells after birth, change the phenotype dramatically, or dominantly as we say in the business. The accidental chromosome number mutations that occur at conception and after birth all generate abnormal chromosome numbers, called aneuploidy, ...
This video lecture, part of the series Useful Genetics by Prof. Rosie Redfield, does not currently have a detailed description and video lecture title. If you have watched this lecture and know what it is about, particularly what Biology topics are discussed, please help us by commenting on this video with your suggested description and title. Many thanks from ...
The Doctors Laboratory website uses cookies to improve your experience. By continuing to use this site, you are agreeing to our use of cookies.To find out more information, please visit our Cookie Policy page.. ...
cDNA microarray. The mouse erythroleukemia cell line DP16.1 and its derivative DP16.1/p53ts (which bears a temperature-sensitive mutation of p53 that inactivates it at 37°C) were cultured in α-MEM supplemented with 10% FCS for 6 hours at 37°C or 32°C. Total RNA was extracted using the RNeasy total RNA extraction kit (Qiagen, Valencia, CA). Synthesis of cDNA probes using Cy3 and Cy5, hybridization of these probes to the mouse GEM1 cDNA microarray, and signal intensity analyses were done by IncyteGenomics, Inc. (Palo Alto, CA).. Prediction of promoter and p53-binding sites. Mouse and human genomic DNA sequences were obtained from National Center for Biotechnology Information Entrez Gene (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene). Promoter sequences were predicted using WWW Promoter Scan program (http://www-bimas.cit.nih.gov/molbio/proscan/; ref. 10). Potential p53-binding sites were sought using TFBIND (http://tfbind.hgc.jp/; ref. 11).. Cell culture and DNA transfection. E14K ...
Sigma-Aldrich offers abstracts and full-text articles by [Katie Snape, Sandra Hanks, Elise Ruark, Patricio Barros-Núñez, Anna Elliott, Anne Murray, Andrew H Lane, Nora Shannon, Patrick Callier, David Chitayat, Jill Clayton-Smith, David R Fitzpatrick, David Gisselsson, Sebastien Jacquemont, Keiko Asakura-Hay, Mark A Micale, John Tolmie, Peter D Turnpenny, Michael Wright, Jenny Douglas, Nazneen Rahman].
This website is intended for educational purposes only. The educational material contained in this website is based on interpretation of the scientific literature and the experience of the T.A. Sciences and Recharge Biomedical Clinic. Telomerase Activation is rapidly-evolving science and experts have differing views as to its benefits and safety. We urge each prospective client to become educated and consult their own experts prior to starting the PATTON PROTOCOL. Statements on this website have not been evaluated by the Food and Drug Administration ...
You lkj.ytmj.askdrcliff.com.ukm.tj blank genetic viagra canada generic levitra online amoxil overnight atarax atarax canada super p force oral jelly tadalis wrists featuring ,a href=http://detroitcoralfarms.com/viagra-buy-in-canada/,walmart viagra 100mg price,/a, ,a href=http://hilltopsnewspaper.com/levitra/,levitra,/a, ,a href=http://getfreshsd.com/buy-amoxicillin/,amoxicillin 500mg capsules to buy,/a, ,a href=http://meilanimacdonald.com/atarax/,atarax,/a, ,a href=http://aestheticio.com/super-p-force-oral-jelly/,super p force oral jelly brand,/a, ,a href=http://elegantearthatthearbor.com/drugs/tadalis/,tadalis generic,/a, dysphasia, young ...
This is a list of changes made recently to pages linked from a specified page (or to members of a specified category). Pages on your watchlist are bold. ...
This is a list of changes made recently to pages linked from a specified page (or to members of a specified category). Pages on your watchlist are bold. ...
Familial Mixoploidy (Chromosomal Mosaicism): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis.
Wu, S.; Scheible, W.-R.; Schindelasch, D.; van Den Daele, H.; de Veylder, L.; Baskin, T. I.: A conditional mutation in Arabidopsis thaliana separase induces chromosome non-disjunction, aberrant morphogenesis and cyclin B1;1 stability. Development 137 (6), pp. 953 - 961 (2010 ...
Changes in gene and chromosome copy number are widely observed in systems from cancer to drug resistance to genome evolution. Despite the importance of aneuploi...
Women under the age of 35, have approximately a 30 percent chance of aneuploidy - embryos with chromosomal abnormalities. Matthew Rabinowitz, PhD, CEO of Natera explains that these women in addition to women over the age of 35, may also want to consider PGD (preimplantation genetic diagnosis).
Aneuploidy is a chromosome mutation in which the number of chromosomes is abnormal and differs from the usual 46 chromosomes. ... "Aneuploidy". An Introduction to Genetic Analysis. 7th edition. National Center for Biotechnology Information. Retrieved May 15 ... which tests IVF embryos before pregnancy and Preimplantation genetic screening which screens non-IVF embryos for aneuploidy. ...
Because aneuploidy is a common feature in tumour cells, the presence of aneuploidy in cells does not necessarily mean CIN is ... CIN often results in aneuploidy. There are three ways that aneuploidy can occur. It can occur due to loss of a whole chromosome ... One way of differentiating aneuploidy without CIN and CIN-induced aneuploidy is that CIN causes widely variable (heterogeneous ... Segmental aneuploidy can occur due to deletions, amplifications or translocations, which arise from breaks in DNA, while loss ...
... mutant has aneuploidy tolerance. "SRC1 - SGD". www.yeastgenome.org. v t e. ...
Amon's aneuploidy research has potential applications to cancer research. She found that aneuploidy can interfere with a cell's ... Williams, Bret R.; Amon, Angelika (2009). "Aneuploidy -Cancer's Fatal Flaw?". Cancer Research. 69 (2389): 5289-91. doi:10.1158/ ... growth and physiology and demonstrated that mammalian aneuploidy results in a stress response analogous to yeast aneuploidy. ... and effects of aneuploidy on normal physiology and tumorigenesis. As a student under Nasmyth, Amon made significant discoveries ...
In vitro knockdown of Bub1 in p53 impaired cells (e.g. HeLa cells) caused aneuploidy. Whether aneuploidy alone is a sufficient ... Loss-of-function mutations or absence of Bub1 has been reported to result in aneuploidy, chromosomal instability (CIN) and ... Depletion of Bub1 results in increased CIMD in order to avoid aneuploidy caused by reduced SAC functioning. The transcriptional ... More precisely, mutations in the spindle checkpoint can lead to chromosomal instability and aneuploidy, a feature present in ...
Aneuploidy is more common. Polyploidy occurs in humans in the form of triploidy, with 69 chromosomes (sometimes called 69, XXX ... ", "good", and "fold"). Aneuploidy refers to a numerical change in part of the chromosome set, whereas polyploidy refers to a ...
In fact, aneuploidy is the most common characteristic of human solid tumors and thus the spindle assembly checkpoint might be ... Due to the fact that alterations in mitotic regulatory proteins can lead to aneuploidy and this is a frequent event in cancer, ... ISBN 978-0-8153-4432-2. Kops GJ, Weaver BA, Cleveland DW (October 2005). "On the road to cancer: aneuploidy and the mitotic ... Examples include: In cancer cells, aneuploidy is a frequent event, indicating that these cells present a defect in the ...
Aneuploidy may be a cause of a random spontaneous as well as recurrent pregnancy loss. Aneuploidy is more common with advanced ... Angell RR (July 1994). "Aneuploidy in older women. Higher rates of aneuploidy in oocytes from older women". Human Reproduction ... MacLennan M, Crichton JH, Playfoot CJ, Adams IR (September 2015). "Oocyte development, meiosis and aneuploidy". Seminars in ...
Prenatal screening for aneuploidy". The New England Journal of Medicine. 360 (24): 2556-62. doi:10.1056/NEJMcp0900134. PMID ... Apart from sex chromosome disorders, most cases of aneuploidy result in death of the developing fetus (miscarriage); the most ...
Aneuploidy, a condition in which nondisjunction gives rise to gametes with an abnormal number of chromosomes, is one of the ... The underlying cause of aneuploidy remains highly debated; however, entosis is shown to perturb cytokinesis (cytoplasmic ... aneuploidy by invasion". Nature Cell Biology. 13 (3): 199-201. doi:10.1038/ncb0311-199. PMID 21364569. S2CID 13198876. ...
High levels of sperm aneuploidy. Men with severe oligozoospermia, asthenozoospermia or teratozoospermia. The egg quality has ...
GLB1 Mosaic variegated aneuploidy syndrome; 257300; BUB1B Mowat-Wilson syndrome; 235730; ZEB2 Muckle-Wells syndrome; 191900; ...
Demaliaj, Eliona; Cerekja, Albana; Piazze, Juan (16 May 2012). "Sex Chromosome Aneuploidies". Aneuploidy in Health and Disease ... In sex chromosome aneuploidies as a whole, epilepsy is usually mild and amenable to treatment, and reports of epilepsy in ... Chromosome aneuploidies such as pentasomy X are diagnosed through the process of karyotyping, or chromosome testing. Diagnosis ... More common aneuploidy syndromes, such as Down syndrome and Klinefelter's syndrome, have strong relationships with maternal age ...
Strains of S. cerevisiae that tolerate aneuploidy can stabilize products of broken chromosomes during proliferation, which can ... "Identification of Aneuploidy-Tolerating Mutations". Cell. 143 (1): 71-83. doi:10.1016/j.cell.2010.08.038. ISSN 0092-8674. PMC ... cerevisiae due to its known ability to tolerate aneuploidy, an abnormal number of chromosomes. ...
Cysts confers a 1% risk of fetal aneuploidy. The risk of aneuploidy increases to 10.5-12% if other risk factors or ultrasound ... Peleg D, Yankowitz J (July 1998). "Choroid plexus cysts and aneuploidy". Journal of Medical Genetics. 35 (7): 554-7. doi: ... and whether the cysts are found on both sides or not do not affect the risk of aneuploidy. 44-50% of Edwards syndrome (trisomy ...
Aneuploidy Robinson WP (May 2000). "Mechanisms leading to uniparental disomy and their clinical consequences". BioEssays. 22 (5 ...
Hall H, Hunt P, Hassold T. (2006). Meiosis and sex chromosome aneuploidy: how meiotic errors cause aneuploidy; how aneuploidy ... 2018). Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal ... 2018). Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and ... Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population. Public Library of Science (Plos ONE), 11(8), 1 ...
Aneuploidy is the presence of too many or too few chromosomes in a cell. Male phenotypes, innate or induced, with forms of X ... Chromosome aneuploidies such as tetrasomy X are diagnosed via karyotype, the process in which chromosomes are tested from blood ... In common aneuploidies such as Down syndrome, the relationship with maternal age is extensively studied. In Klinefelter ... Some cases of tetrasomy X have been described as having "a false air of trisomy 21" (the underlying chromosomal aneuploidy in ...
As a result, homologous chromosomes may align independently on the meiotic spindle, risking aneuploidy that represents a key ... Jones, Keith T.; Lane, Simon I. R. (September 2013). "Molecular causes of aneuploidy in mammalian eggs". Development. 140 (18 ... meiosis and aneuploidy". Seminars in Cell & Developmental Biology. 45: 68-76. doi:10.1016/j.semcdb.2015.10.005. ISSN 1096-3634 ... and is currently regarded as the largest risk factor underlying instances of aneuploidy in human populations. The mechanisms by ...
Sperm aneuploidy[edit]. Exposure of males to certain lifestyle, environmental and/or occupational hazards may increase the risk ... Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001). "Cigarette smoking and aneuploidy in human sperm". Mol. Reprod. ... Templado C, Uroz L, Estop A (2013). "New insights on the origin and relevance of aneuploidy in human spermatozoa". Mol. Hum. ... Governini L, Guerranti C, De Leo V, Boschi L, Luddi A, Gori M, Orvieto R, Piomboni P (2014). "Chromosomal aneuploidies and DNA ...
"Breakthrough Prizes Recognize Aneuploidy Researcher, Biochemist". The Scientist Magazine. 18 October 2018. Retrieved 20 October ...
Bharadwaj R, Yu H (March 2004). "The spindle checkpoint, aneuploidy, and cancer". Oncogene. 23 (11): 2016-27. doi:10.1038/sj. ...
Aneuploidy is a drastic divergence from the normal karyotype, as such the potential heterogeneity within these cells makes ... It is one of many causes of aneuploidy. This event can occur during both meiosis and mitosis with unique repercussions. In ... There are many ways to cause aneuploidy, however the genomic predispositions for these events are less well understood. In ... tested drug susceptibility on cell lines with and without aneuploidy. While the diploid cell lines remained drug sensitive, the ...
aneuploidy The condition of a cell or organism having an abnormal number of one or more specific individual chromosomes (but ... Euploidy differs from aneuploidy, in which a cell or organism has an abnormal number of one or more specific individual ... It is a type of aneuploidy. mosaicism The presence of two or more populations of cells with different genotypes in an ...
"Breakthrough Prizes Recognize Aneuploidy Researcher, Biochemist". The Scientist Magazine. 18 October 2018. Retrieved 20 October ...
2008). "Aneuploidy: Cells Losing Their Balance". Genetics. 179 (2): 737-46. doi:10.1534/genetics.108.090878. PMC 2429870. PMID ...
Sex chromosome aneuploidies are the most frequent form of aneuploidy in humans. Though a 48-chromosome complement involving the ... Sex chromosome aneuploidies occur via a process known as non-disjunction, where chromosomes fail to divide properly during cell ... Chromosome aneuploidies such as 48,XYYY are diagnosed via karyotype. Rarely, XYYY syndrome has been detected prenatally via ... Mazauric-Stüker M, Kordt G, Brodersen D (January 1992). "Y aneuploidy: a further case of a male patient with a 48,XYYY ...
A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Most organisms that reproduce sexually have pairs of ... Chromosome abnormalities Aneuploidy Karyotype Sexual reproduction Monosomy "CRC - Glossary T". Archived from the original on ... O'Connor, Clare (2008). "Chromosomal Abnormalities: Aneuploidies". Nature Education. 1 (1): 172.. ...
Bianchi, DW; Platt LD; Goldberg JD; Abuhamad AZ; Sehnert AJ; Rava RP (2012). "Genome-wide fetal aneuploidy detection by ... 2002). "Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data". Prenatal ... February 27, 2014). "DNA sequencing versus standard prenatal aneuploidy screening". New England Journal of Medicine. 370 (9): ... February 27, 2014). "DNA sequencing versus standard prenatal aneuploidy screening". New England Journal of Medicine. 370 (9): ...
Cigarette smoke is a known aneugen (aneuploidy inducing agent). It is associated with increases in aneuploidy ranging from 1.5 ... Trisomy X is a form of sex chromosome aneuploidy where females have three instead of two X chromosomes. Most patients are only ... Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001). "Cigarette smoking and aneuploidy in human sperm". Mol. Reprod. ... Surveys of cases of human aneuploidy syndromes have shown that most of them are maternally derived. This raises the question: ...
Symposium on Aneuploidy: Etiology and Mechanisms was held at the Carnegie Institution of Washington Auditorium from March 25- ... The Impact of Aneuploidy. * The Impact of Aneuploidy Upon Public Health: Mortality and Morbidity Associated with Human ... Etiological Aspects of Human Aneuploidy. * Meiotic Investigations of Aneuploidy in the Human ... lem of human aneuploidy, and whether exposure to environmental agents is assodated with an increased incidence of aneuploidy in ...
Aneuploidy Causes a Stress Response in Fission Yeast.. We next sought to determine whether aneuploidy causes a stress response ... Why is aneuploidy associated with a stress response? First, aneuploidy increases a cells energy needs. This may result from ... Aneuploidy Causes a Stress Response in Arabidopsis thaliana.. Based on the conserved transcriptional response to aneuploidy ... These results present aneuploidy as a complex phenomenon with potentially antitumorigenic properties. Although aneuploidy can ...
Tetraploidy, aneuploidy and cancer.. Ganem NJ1, Storchova Z, Pellman D.. Author information. 1. Department of Pediatric ... Aneuploidy is one of the most obvious differences between normal and cancer cells. However, there remains debate over how ...
... a situation known as aneuploidy. Explore symptoms, inheritance, genetics of this condition. ... Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of ... Genetic Testing Registry: Mosaic variegated aneuploidy syndrome *Genetic Testing Registry: Mosaic variegated aneuploidy ... Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of ...
Autosomal aneuploidy is more dangerous than sex chromosome aneuploidy. Autosomal aneuploidy is almost always lethal and cease ... However, mitotic aneuploidy may be more common than previously recognized in somatic tissues, and aneuploidy is a ... Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes ... The most common aneuploidy that infants can survive with is trisomy 21, which is found in Down syndrome, affecting 1 in 800 ...
The spindle checkpoint, aneuploidy, and cancer.. Bharadwaj R1, Yu H.. Author information. 1. Department of Pharmacology, UT ... Cancer cells contain abnormal number of chromosomes (aneuploidy), which is a prevalent form of genetic instability in human ... in a cell cycle surveillance mechanism called the spindle checkpoint contribute to chromosome instability and aneuploidy. In ...
More recent studies on whole chromosomal aneuploidy as well as segmental aneuploidy indicate that aneuploidy in S. pombe ... THE STUDIES OF ANEUPLOIDY: A LONG TRADITION. The first systematic analysis of the effects of aneuploidy on cell and organismal ... WHY DOES ANEUPLOIDY REDUCE ORGANISMAL FITNESS?. To understand the basis for the reduced fitness caused by aneuploidy, we must ... ANEUPLOIDY: CANCERS ACHILLES HEAL?. Given that most solid tumors are aneuploid, the cellular consequences of aneuploidy could ...
... at BellaOnline ... Reducing sperm aneuploidy may reduce pregnancy loss and up the chances of a live birth after ICSI. A natural L-Carnitine ... an elevated sperm aneuploidy rate is associated with a greater rate of pregnancy failure." (1). Fortunately, a natural ... Sperm aneuploidy is a little talked about sperm abnormality that has been linked with increased rates of miscarriage; ...
... which is a source of chromosome segregation errors and aneuploidy. Excessive aneuploidy in ATIP3-deficient cells treated with ... Improving breast cancer sensitivity to paclitaxel by increasing aneuploidy. Sylvie Rodrigues-Ferreira, Anne Nehlig, Hadia ... Improving breast cancer sensitivity to paclitaxel by increasing aneuploidy. Sylvie Rodrigues-Ferreira, Anne Nehlig, Hadia ... Improving breast cancer sensitivity to paclitaxel by increasing aneuploidy Message Subject (Your Name) has sent you a message ...
Please Note: this test does not screen for aneuploidy of chromosome 21 (e.g. Trisomy 21 / Down syndrome). If the patient is ...
Taranissi M, El-Toukhy T, Gorgy A, Verlinsky Y. Influence of maternal age on the outcome of PGD for aneuploidy in patients with ... Rubio C, Rodrigo L, Perez-Cano, Mercader A, Mateu E, Buendia, Remohi J, Simon C, Pellicer A. FISH screening of aneuploidies in ... Munne S, Lee A, Rosenwak Z, Grifo J, Cohen J. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum ... Preimplantation genetic diagnosis Aneuploidy screening Discordance among blastomeres Chromosomal discordance This is a preview ...
... a condition called aneuploidy. Aneuploidy has been associated with several developmental defects and is a hallmark of cancer. ... Preventing aneuploidy and the consequences of failure. Author(s). Prabhu, Vineet R. (Vineet Ranjan) ... cont.) In the second part of the thesis, we examine the effects of aneuploidy on primary mouse cells by generating a series of ... Our data indicate that aneuploidy decreases not only organismal but also cellular fitness and elicits traits that are shared ...
Information and statements regarding dietary supplements/products have not been evaluated by the Food and Drug Administration and are not intended to diagnose, treat, cure, or prevent any disease. Information on this website is provided for informational purposes only and is a result of years of practice and experience by the author. This information is not intended as a substitute for the advice provided by your physician or other healthcare professional or any information contained on or in any product label or packaging. Do not use the information on this website for diagnosing or treating a health problem or disease, or prescribing medication or other treatment. Always speak with your physician or other healthcare professional before taking any medication or nutritional, herbal, or homeopathic supplement, or using any treatment for a health problem. If you have or suspect that you have a medical problem, contact your healthcare provider promptly. Do not disregard professional medical advice ...
Performance of the Verinata Health Prenatal Aneuploidy Test Compared to Current Fetal Aneuploidy Screening Results and ... Comparison of Aneuploidy Risk Evaluations (CARE). The safety and scientific validity of this study is the responsibility of the ... The primary outcome of this study is the false positive rate of fetal aneuploidy detection for chromosome 21, 18, and 13 by the ... Women who plan or have already completed prenatal screening for fetal aneuploidy during first and/or second trimester, will be ...
163: Screening for Fetal Aneuploidy Obstet Gynecol. 2016 May;127(5):e123-37. doi: 10.1097/AOG.0000000000001406. ... Screening for aneuploidy should be an informed patient choice, with an underlying foundation of shared decision making that ... The purpose of prenatal screening for aneuploidy is to provide an assessment of the womans risk of carrying a fetus with one ... of the more common fetal aneuploidies. This is in contrast to prenatal diagnostic testing for genetic disorders, in which the ...
In cases in which aneuploidy is observed system-wide, the degree of aneuploidy is limited to only one additional chromosome and ... the tissue in which the aneuploidy occurs, and the genetic state of the cell that acquires the aneuploidy. It is also important ... Here aneuploidy is not restricted to one chromosome but the disease is characterized by a high degree of numeric as well as ... Aneuploidy is defined as the alteration of chromosome number that is not a multiple of the haploid complement. This condition ...
... J Cell Sci. 2008 Dec 1;121(Pt 23):3859-66. doi: 10.1242/jcs.039537. ... Both CIN and stable aneuploidy are commonly observed in cancers. Recently, it has been proposed that an increased number of ...
For example, aneuploidy might be alleviated by the epigenetic silencing of unpaired chromosomes (de la Casa-Esperon and S ... Aneuploidy and Genetic Variation in the Arabidopsis thaliana Triploid Response. Isabelle M. Henry, Brian P. Dilkes, Kim Young, ... Aneuploidy and Genetic Variation in the Arabidopsis thaliana Triploid Response. Isabelle M. Henry, Brian P. Dilkes, Kim Young, ... Aneuploidy and Genetic Variation in the Arabidopsis thaliana Triploid Response. Isabelle M. Henry, Brian P. Dilkes, Kim Young, ...
Non-Invasive Screening for Fetal Aneuploidy. The safety and scientific validity of this study is the responsibility of the ... Validate the prenatal aneuploidy LDT with blood samples from pregnant women who are undergoing invasive prenatal diagnosis [ ... Aneuploidy. Trisomy 18 Syndrome. Disease. Pathologic Processes. Intellectual Disability. Neurobehavioral Manifestations. ... Subject will receive results of a genetic analysis that includes evaluation of the fetus for aneuploidy ...
Most human tumors have abnormal numbers of chromosomes, a condition known as aneuploidy. The mitotic checkpoint is an important ... mechanism that prevents aneuploidy by restraining the activity of the anaphase-promoting complex (APC). The deubiquitinase ...
We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic ... analysis showed a mosaicism for a double aneuploidy, ... Cytogenetic analysis showed a mosaicism for a double aneuploidy ... Mosaic double aneuploidies are very rare and features of only one of the aneuploidies may predominate in childhood. Cytogenetic ... We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. ...
What Is Aneuploidy?. The term aneuploidy is used to describe an abnormal number of chromosomes. Normally, an egg has 23 ... Aneuploidy can happen in any pregnancy, but the chances increase as a woman ages. Because many embryos with aneuploidy are ... PGS for aneuploidy may be a consideration if the woman is age 35 or older, if the couple has had a previous pregnancy with a ... The majority of embryos with aneuploidy will not implant in the uterus or will result in a miscarriage. The majority of first ...
"Chromosomal Instability, Aneuploidy, and Cancer." Frontiers in Oncology 4 (1): 161. doi:10.3389/fonc.2014.00161. http://dx.doi. ...
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.. [Katie Snape, Sandra Hanks, Elise Ruark, Patricio Barros-Núñez ... loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is ...
Medical organizations endorse the "Undetectable = Untransmissible" campaign, which aims to raise awareness of scientific evidence showing that virally suppressed people living with HIV cannot infect others.. 0 Comments. ...
Background: The Aneuploidy Controversy. *Resolution of the Aneuploidy Controversy: Aneuploidy Acts Both Oncogenically and as a ... Resolution of the Aneuploidy Controversy: Aneuploidy Acts Both Oncogenically and as a Tumor Suppressor. We recently identified ... 1 ). For aneuploidy, experiments to delineate precisely in what contexts aneuploidy acts oncogenically and those in which it ... Background: The Aneuploidy Controversy. Chromosome missegregation leading to aneuploidy was identified as a recurrent defect in ...
Secondly, the limited number of targeted aneuploidies (trisomies 21, 18, 13 and common sex chromosome aneuploidies) in contrast ... Sehnert et al (2011) reported on a cross sectional study of the use of cell-free DNA to detect fetal aneuploidy. Blood samples ... However, aneuploidy screening based on cfDNA presents 2 major limitations, which must be taken into account because they ... Fetal chromosomal aneuploidy (eg, trisomy 21, monosomy X) genomic sequence analysis panel, circulating cell-free fetal DNA in ...
Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression. ... Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression. ... Furthermore, a broad spectrum of tissues of Cep57T/T mice had severe aneuploidy at birth, consistent with the MVA patient ... A homozygous truncating frameshift mutation in CEP57 (CEP57T/T) has been identified in a subset of mosaic-variegated aneuploidy ...
... Daniele Calistri,1 Claudia Rengucci ... different occurrence of KRAS and p53 mutations among predetermined subgroups of tumors with different degrees of DNA aneuploidy ...
Primary Health Care Offering Inex Non-invasive Prenatal Aneuploidy Test in Australia. Feb 19, 2013 ... Home » Primary Health Care Offering Inex Non-invasive Prenatal Aneuploidy Test in Australia ...
  • 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)
  • Taken together, our results demonstrate that aneuploidies of different chromosomes and in different organisms impact similar cellular pathways and cause a stereotypical antiproliferative response that must be overcome before transformation. (pnas.org)
  • To examine the consequences of aneuploidy, we have previously constructed and analyzed a series of haploid budding yeast strains and mouse embryonic fibroblasts (MEFs) that carry single extra chromosomes ( 13 ⇓ ⇓ ⇓ - 17 ). (pnas.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)
  • Cancer cells contain abnormal number of chromosomes (aneuploidy), which is a prevalent form of genetic instability in human cancers. (nih.gov)
  • 228 IVF embryos had two blastomeres removed and fluorescent in situ hybridization (FISH) was used to detect aneuploidy of chromosomes 13, 15, 16, 18, 21, 22, X and Y. Of the 228 embryos, 102 had complete FISH results for both blastomeres. (springer.com)
  • A failure to segregate chromosomes correctly in either division results in offspring having an incorrect chromosome number: a condition called aneuploidy. (mit.edu)
  • In the second part of the thesis, we examine the effects of aneuploidy on primary mouse cells by generating a series of cell lines that carry an extra copy of one of four mouse chromosomes. (mit.edu)
  • Most human tumors have abnormal numbers of chromosomes, a condition known as aneuploidy. (jci.org)
  • The term aneuploidy is used to describe an abnormal number of chromosomes. (fertilityauthority.com)
  • However, sometimes an egg or sperm may have an abnormal number of chromosomes, which results in an embryo with aneuploidy. (fertilityauthority.com)
  • New genetic testing techniques such as array CGH allow testing on all of the chromosomes for aneuploidy with results returned in time for an embryo transfer with no need for embryo freezing. (fertilityauthority.com)
  • For example, three number 21 chromosomes or trisomy 21 (characteristic of Down syndrome ) is a form of aneuploidy. (medical-library.net)
  • One of the theories of cancer is that it is set in motion by aneuploidy later in life when there is an unequal division of chromosomes during cell division. (medical-library.net)
  • Currently, the most popular technique is CCS, which tests all 23 pairs of chromosomes using comparative genomic hybridization (CGH), CGH is a DNA-based method that can detect total or partial aneuploidy for all chromosomes. (thefreedictionary.com)
  • Aneuploidy describes the state of cellular dysfunction that arises from one or more missing or extra chromosomes , a problem that can occur as the result of malfunctions during cellular replication. (fightaging.org)
  • Moreover, aneuploidy resulting from lagging chromosomes/weakened mitotic checkpoint has been associated with cellular senescence and premature aging. (fightaging.org)
  • Aneuploidy, a genetic condition characterized by an abnormal number of chromosomes, is a common cause of miscarriage and congenital birth defects. (prnewswire.com)
  • Integrating our driver predictions with information on somatic copy number alterations, we find that the distribution and the potency of TSGs (STOP genes), OGs and essential genes (GO genes) on chromosomes can predict the complex patterns of aneuploidy and copy number variation characteristic of cancer genomes. (cam.ac.uk)
  • The loss or gain of one or more chromosomes is known as aneuploidy. (bmj.com)
  • In the case of aneuploidy, the cell may gain or lose one or more chromosomes. (bmj.com)
  • Cells with more than a diploid but less than a tetraploid complement of chromosomes are referred to as having hyperdiploid aneuploidy. (bmj.com)
  • The DNA index of a tumour indicates the degree of aneuploidy and it is calculated as modal number of chromosomes of the tumour population divided by the reference number of chromosomes of the normal diploid cells. (bmj.com)
  • The observation of this phenomenon prompted Theodor Boveri to propose that missegregation of chromosomes caused by abnormal mitosis leads to aneuploidy and might be a cause of tumor development ( Boveri, 2008 ). (biologists.org)
  • Martin RH, Rademaker AW: The frequency of aneuploidy among individual chromosomes in 6,821 human sperm chromosome complements. (springer.com)
  • The discovery of factors associated with aneuploidy will be essential in learning how to prevent the deleterious effects that occur as a result of malsegregation of chromosomes. (tennessee.edu)
  • Aneuploidy testing lets us handpick embryos with the correct number of chromosomes. (monashivf.com)
  • A recent study by the SISMER centre in Bologna used biopsies on polar bodies - the waste products produced by oocytes (eggs) during maturation - to show the extent of aneuploidy, caused by an incorrect separation of chromosomes, and that this was far more frequent in older women. (healthcanal.com)
  • Kurilo, L. 2011-06-16 00:00:00 Analysis of sperm aneuploidy in 11 healthy men using two-or three-color FISH permitted to determine the average frequency of disomy for chromosomes 13 and 21 (0.11% and 0.2%, respectively), disomy for chromosome 18 (0.05%) and to reveal gonosomal aneuploidy variants and their frequency. (deepdyve.com)
  • Another hallmark of cancer cells, first recognized over one hundred years ago by Boveri [ 11 , 12 ] is aneuploidy, or an abnormal and unbalanced number of chromosomes compared to diploid normal cells. (biomedcentral.com)
  • Using model cell lines engineered to carry one or more extra chromosomes, it has been demonstrated that aneuploidy per se impairs proliferation, leads to proteotoxic as well as replication stress and triggers conserved transcriptome and proteome changes. (biomedcentral.com)
  • Loss or gain of chromosomes during mitotic divisions leads to the production of cells with a DNA content greater or less than 2N, a condition known as aneuploidy, which is a hallmark of cancer cells. (rupress.org)
  • Aneuploidy is a chromosome mutation in which the number of chromosomes is abnormal and differs from the usual 46 chromosomes. (wikipedia.org)
  • a situation known as aneuploidy. (medlineplus.gov)
  • A change in chromosome number that is not the exact multiple of the haploid karyotype is known as aneuploidy. (genetics.org)
  • PGT-A is a form of genetic testing used to look for chromosome abnormalities (also known as "aneuploidy") in embryos before they are transferred into the uterus to attempt pregnancy. (rmany.com)
  • Pre-implantation genetic screening (PGS) also known as aneuploidy screening is a screening test for detecting chromosomal abnormalities in the developing embryo. (fertilityexpert.co.uk)
  • The first systematic analysis of the effects of aneuploidy on cell and organismal physiology was performed more than a century ago in the sea urchins species Paracentrotus lividus , Echinus microtuberculatus , and Strongylocentrotus purpuratus by Theodor Boveri ( B overi 1902 , 1904 ). (genetics.org)
  • Here we summarize our recent findings on the effects of aneuploidy on cell physiology and proliferation. (aacrjournals.org)
  • To begin to shed light on this question, we characterized the effects of aneuploidy on mammalian cell proliferation and physiology. (aacrjournals.org)
  • The controversy about the role of aneuploidy in tumorigenesis has stemmed from the inability to test the effects of aneuploidy in the absence of other defects. (aacrjournals.org)
  • In the absence of a definitive test of the effects of aneuploidy, research has focused on the numerous associations between aneuploidy and precancerous lesions, including those of the cervix, head and neck, colon, esophagus, and bone marrow ( 11 ). (aacrjournals.org)
  • Therefore, these genetically sophisticated attempts at dissecting the role of aneuploidy in tumorigenesis suffer from the same deficiencies as earlier experiments in that they examine the effects of aneuploidy only in the context of additional, often incompletely characterized, defects. (aacrjournals.org)
  • Our work suggests that the changes of the microRNAome contribute on one hand to the adverse effects of aneuploidy on cell physiology, and on the other hand to the adaptation to aneuploidy by supporting translation under adverse conditions. (biomedcentral.com)
  • Recently developed aneuploid model systems in several different species have accelerated research on the effects of aneuploidy per se . (biomedcentral.com)
  • Autosomal aneuploidy is almost always lethal and cease developing as embryos. (wikipedia.org)
  • Sable D, Ferraretti AP, Massey JB, Scott R. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. (springer.com)
  • The majority of embryos with aneuploidy will not implant in the uterus or will result in a miscarriage . (fertilityauthority.com)
  • Because many embryos with aneuploidy are miscarried, the chances of miscarriage also increase as a woman ages. (fertilityauthority.com)
  • NEW YORK (GenomeWeb) - Over the last couple of years, researchers have demonstrated that a next-generation sequencing-based approach to detect chromosomal aneuploidies in embryos before they are implanted as part of an in vitro fertilization cycle can increase the success of IVF at a reasonable price. (genomeweb.com)
  • SAN CARLOS, Calif. , April 15, 2015 /PRNewswire/ -- Natera, Inc., a leader in non-invasive genetic testing, announced the publication of a study in the current issue of Science , which describes the identification of a genetic variant that influences the likelihood of aneuploidy in preimplantation embryos. (prnewswire.com)
  • The Petrov laboratory at Stanford University , in collaboration with scientists from Natera, studied more than 20,000 early stage embryos that were analyzed with the Spectrum™ preimplantation genetic screening test (PGS), to determine whether maternal genetic variations may affect aneuploidy rates. (prnewswire.com)
  • The study, entitled 'Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos ' can be found online at www.sciencemag.org . (prnewswire.com)
  • In this review, we summarize current knowledge on the causes and consequences of aneuploidy in hPSCs and highlight the potential links with genetic changes observed in human cancers and early embryos. (whiterose.ac.uk)
  • Preimplantation genetic testing which tests IVF embryos before pregnancy and Preimplantation genetic screening which screens non-IVF embryos for aneuploidy. (wikipedia.org)
  • Defects in a cell cycle surveillance mechanism called the spindle checkpoint contribute to chromosome instability and aneuploidy. (nih.gov)
  • The negative consequences of aneuploidy on the gametophytes and the progeny, as well as meiotic instability, can contribute to a dramatic reduction in fertility of triploids ( K hush 1973 ). (genetics.org)
  • 2014. "Chromosomal Instability, Aneuploidy, and Cancer. (harvard.edu)
  • Evidence such as tumour specific aneuploidy, presence of aneuploidy in various preneoplastic conditions, increased frequency of genetic instability in aneuploid cell lines compared with diploid cells, and mutation of mitotic checkpoint genes suggests that aneuploidy possibly plays an active role in carcinogenesis. (bmj.com)
  • Others found a relationship of DNA aneuploidy, which reflects chromosomal instability (CIN), with dysplasia [ 6 - 11 ]. (pubmedcentralcanada.ca)
  • Genome instability leading to genome rearrangements and aneuploidy is a hallmark of cancer and is found in ~90% of solid tumors. (spectral-imaging.com)
  • Aneuploidy, the most deleterious form of genomic instability, is detrimental for normal cells. (spectral-imaging.com)
  • The expression of these genes in epithelial stem cells first results in chromosomal instability and induces chromosomal aneuploidy. (aacrjournals.org)
  • Thus, cell clones that express the viral E6 and E7 oncogenes undergo chromosomal instability and rapidly develop aneuploidy. (aacrjournals.org)
  • The chromatin-silencing defect of disome X can be partially recapitulated by an extra copy of several genes on chromosome X. These results suggest that aneuploidy can directly cause epigenetic instability and disrupt cellular differentiation. (elifesciences.org)
  • Persistent mitochondrial hyperfusion also induces centrosomal overamplification and chromosomal instability, which are causes of aneuploidy. (biologists.org)
  • The mitotic checkpoint is an important mechanism that prevents aneuploidy by restraining the activity of the anaphase-promoting complex (APC). (jci.org)
  • Some attempts to address the role of aneuploidy in tumorigenesis have come from experiments using animals with reduced expression of mitotic checkpoint genes, including Mad1, Mad2, BubR1 , and Bub3 . (aacrjournals.org)
  • The mitotic checkpoint (also known as the spindle assembly checkpoint) is the major cell cycle control mechanism that acts during mitosis to prevent chromosome missegregation and aneuploidy. (aacrjournals.org)
  • Complete deletions of mitotic checkpoint genes are uniformly lethal in mammals, but animals with reduced expression of these proteins survive and develop aneuploidy at elevated rates ( 13 - 15 ). (aacrjournals.org)
  • 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)
  • In general, individuals who are mosaic for a chromosomal aneuploidy tend to have a less severe form of the syndrome compared to those with full trisomy. (wikipedia.org)
  • Mosaic double aneuploidy: Down syndrome and XYY. (biomedsearch.com)
  • We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. (biomedsearch.com)
  • Cytogenetic analysis showed a mosaicism for a double aneuploidy, Down syndrome and XYY. (biomedsearch.com)
  • Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. (sigmaaldrich.com)
  • Common types of aneuploidy are monosomy (the loss of one chromosome) of the X chromosome in females-Turner syndrome (45, X)-and some trisomies, three copies of a given chromosome in a diploid cell. (thermofisher.com)
  • PubMed and Cochrane Database were searched for relevant English and French language articles published between 1985 and 2010, using appropriate controlled vocabulary and key words (aneuploidy, Down syndrome, trisomy, prenatal screening, genetic health risk, genetic health surveillance, prenatal diagnosis, twin gestation). (unboundmedicine.com)
  • Prenatal screening for fetal aneuploidy is most frequently discussed in terms of prenatal screening for trisomy 21 (Down syndrome) as this is the most common form of fetal aneuploidy and this condition has clinical implications for the health of the fetus [ 3 , 4 ]. (mdpi.com)
  • Down's syndrome, in which there is trisomy 21, is an example of germ cell aneuploidy. (bmj.com)
  • Seraseq Trisomy 21 Aneuploidy Linearity Panel (FF1-8) is a full-process reference material for NGS based NIPT assays designed to detect Trisomy 21 (Down syndrome) in cell-free DNA (cfDNA) circulating in the maternal bloodstream. (seracare.com)
  • Conditions such as Down's syndrome, Kleinfelter's Syndrome disease, or Turner's syndrome are among the many genetic diseases due to aneuploidy. (fertilityexpert.co.uk)
  • We will then discuss the molecular basis for the defects caused by aneuploidy and end with speculations as to whether and how aneuploidy, despite its deleterious effects on organismal and cellular fitness, contributes to tumorigenesis. (genetics.org)
  • In this article, we will first review the long history of the aneuploidy field and then provide a summary of the evidence to suggest that it is imbalances in gene dosage that cause the severe defects associated with aneuploidy. (genetics.org)
  • Aneuploidy has been associated with several developmental defects and is a hallmark of cancer. (mit.edu)
  • Using Cenp-E heterozygous animals, which develop whole chromosome aneuploidy in the absence of other defects, we have found that aneuploidy promotes tumorigenesis in some contexts and inhibits it in others. (aacrjournals.org)
  • These data independently confirm the presence of aneuploid NPCs and demonstrate the occurrence of mitotic segregation defects in normal cells that can mechanistically account for aneuploidy in the CNS. (jneurosci.org)
  • Aneuploidy causes severe developmental defects and is a near universal feature of tumor cells. (harvard.edu)
  • In humans, aneuploidy is linked to pathological defects such as developmental abnormalities, mental retardation or cancer, but the underlying mechanisms remain elusive. (uni-muenchen.de)
  • In humans, aneuploidy is the major cause of spontaneous abortions and the few trisomies compatible with survival result in severe developmental defects [ 1 ]. (biomedcentral.com)
  • In humans, aneuploidy is the leading cause of spontaneous abortions and developmental disabilities, and aneuploid karyotypes are observed in greater than 90% of solid tumors ( 2 ⇓ - 4 ). (pnas.org)
  • Aneuploidy is a characteristic of cancer, with greater than 90% of all solid tumors in humans carrying an aberrant karyotype. (aacrjournals.org)
  • We previously investigated a limited number of human sporadic colorectal cancers (CRCs) and observed a statistically different occurrence of KRAS and p53 mutations among predetermined subgroups of tumors with different degrees of DNA aneuploidy. (hindawi.com)
  • Long-term overexpression of Aurora B in vivo results in aneuploidy and the development of multiple spontaneous tumors in adult mice, including a high incidence of lymphomas. (asm.org)
  • In patients with ER/PR negative tumors, aneuploidy independently predicted poor survival (p=0.03), lymph node metastasis (p=0.007) and recurrence (p=0.002). (uib.no)
  • The 'aneuploidy signature' equally identifies these aggressive tumors and suggests a link between aneuploidy and low expression of 15q genes. (uib.no)
  • Aneuploidy, or an aberrant karyotype, results in developmental disabilities and has been implicated in tumorigenesis. (pnas.org)
  • Aberrant segregation events can result in aneuploidy, a condition in which cells acquire a karyotype that is not a whole-number multiple of the haploid complement. (pnas.org)
  • ALTERATIONS in a species' karyotype that involve changes in chromosome number are classified as either aneuploidies or polyploidies. (genetics.org)
  • Such scaling explains the challenge of treating aneuploidy diseases with diverse different karyotypes by imposing a single mode of inhibition, yet specific karyotype features can be highly targetable. (ku.edu)
  • Background: Aneuploidy, a karyotype deviating from multiples of a haploid chromosome set, affects the physiology of eukaryotes. (uni-muenchen.de)
  • The women must have had a screening test for fetal aneuploidy by MPSS or TMPS and a reference standard such as fetal karyotype or medical records from birth. (unboundmedicine.com)
  • A balanced karyotype is essential for cell viability and therefore aneuploidy, characterized by unbalanced changes in chromosome numbers and sub-chromosomal structural variations, has often profound detrimental consequences for cell physiology. (biomedcentral.com)
  • Aneuploidy in somatic cells is frequently associated with cancer, as 70% of haematopoietic and 90% of solid cancers show an abnormal karyotype [ 2 , 3 ]. (biomedcentral.com)
  • Recent progress in understanding the debated role of aneuploidy as a driver or passenger in malignant transformation, as well as how the. (lu.se)
  • Recent progress in understanding the debated role of aneuploidy as a driver or passenger in malignant transformation, as well as how the cell responds to and regulates excess genetic material in experimental settings, is also discussed in detail. (lu.se)
  • 15- 17 In this brief review, the possible mechanisms responsible for aneuploidy and the role of aneuploidy in malignancy are discussed. (bmj.com)
  • In this brief review, the various aspects of aneuploidy with special emphasis on its mechanism of development and impact on progression of cancer are discussed. (bmj.com)
  • This approach not only enabled us to determine whether every chromosome when present in an extra copy interferes with proliferation, but also allowed us to determine whether a general response to aneuploidy exists. (aacrjournals.org)
  • There are many different types and origins of aneuploidy, but whether there is a uniform cellular response to aneuploidy in human cells has not been addressed so far. (uni-muenchen.de)
  • Given that the triggers of the transcriptional deregulations remain unclear, we asked whether microRNA (miRNA) regulation is involved in the response to aneuploidy. (biomedcentral.com)
  • These data suggest that aneuploidy in various species is detrimental to cell fitness, and that many consequences of aneuploidy are a common response to chromosomewide dosage imbalances. (pnas.org)
  • These studies suggest that aneuploidy puts significant stress on the cell, which responds to this condition in what can be viewed as an aneuploidy stress response. (aacrjournals.org)
  • Scientists have long sought to understand what other factors may play a role in the development of aneuploidy. (prnewswire.com)
  • Failure of the spindle checkpoint caused by mutation of the responsible genes may be one of the important factors for the development of aneuploidy. (bmj.com)
  • Down regulation of lamin A/C in non-cancerous primary ovarian surface epithelial cells led to morphological deformation and development of aneuploidy. (biomedcentral.com)
  • The primary outcome of this study is the false positive rate of fetal aneuploidy detection for chromosome 21, 18, and 13 by the Verinata Health Prenatal Aneuploidy Test and screen positive rate for fetal trisomy (T21) and trisomy (T18) by conventional prenatal screening methods. (clinicaltrials.gov)
  • 2. Determine the failure ('no call') rate for the Next-generation Aneuploidy Test Using SNPs (NATUS) method for 22q11.2 detection, as well as for aneuploidy. (clinicalconnection.com)
  • We offer screening systems for aneuploidies that combine markers and assays for high detection rates with low numbers of false positives. (perkinelmer.com)
  • This study suggests that the detection of chromosomal aneuploidies in micromanipulated TCC samples can be achieved by QF-PCR amplification of selected highly polymorphic and chromosome specific markers. (hindawi.com)
  • This study aimed to systematically review the literature and use diagnostic meta-analysis to derive pooled detection and false positive rates for aneuploidies other than trisomy 21 with different prenatal screening tests. (mdpi.com)
  • 6. Determine sensitivity, specificity, and PPV for chromosomal aneuploidies and sex chromosome abnormalities. (clinicalconnection.com)
  • Some people with TRIP13 gene mutations have chromosome abnormalities that indicate problems with chromosome sorting but do not develop aneuploidy. (medlineplus.gov)
  • This thesis addresses both the causes and consequences of aneuploidy. (mit.edu)
  • Thus, understanding the consequences of aneuploidy has broad relevance for the study of mammalian development and cancer. (pnas.org)
  • 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)
  • Aneuploidy, an aberrant chromosome number, has been recognized as a common characteristic of cancer cells for more than 100 years and has been suggested as a cause of tumorigenesis for nearly as long. (aacrjournals.org)
  • Our proteomic analyses further revealed a novel aneuploidy-associated protein expression signature characteristic of altered metabolism and redox homeostasis. (harvard.edu)
  • We identify a characteristic aneuploidy response pattern defined by upregulation of genes linked to endoplasmic reticulum, Golgi apparatus and lysosomes, and downregulation of DNA replication, transcription as well as ribosomes. (uni-muenchen.de)
  • Another common characteristic of human cancer is aneuploidy, but the causes and its role in carcinogenesis are not well established. (biomedcentral.com)
  • To substantiate these findings and address how neural aneuploidy arises, we examined individual neural progenitor cells (NPCs) undergoing mitosis. (jneurosci.org)
  • In this context, a new candidate hallmark for aging arises, aneuploidy, an abnormal chromosomal number that results from mis-segregation events during mitosis, which has been linked to normative aging and age-associated diseases, with the underlying mechanisms being poorly understood. (fightaging.org)
  • Aneuploidy can be detected with the help of traditional metaphase cytogenetics, interphase cytogenetics (fluorescent in situ hybridisation (FISH), multicolour FISH, spectral karyotyping, and comparative genomic hybridisation techniques (CGH)), flow cytometry (FCM), and image cytometry (ICM). (bmj.com)
  • The aim of this study was to investigate the relationship between tobacco smoke habit, patient age, DNA aneuploidy and genomic DNA copy number aberrations (CNAs) in oral potentially malignant disorder (OPMD) and oral squamous cell carcinoma (OSCC) patients. (pubmedcentralcanada.ca)
  • DNA aneuploidy and mean nuclear genomic aberrations were associated with patients' age. (pubmedcentralcanada.ca)
  • Further studies provided also evidences of an association between DNA aneuploidy with high-risk oral mucosa subsites [ 12 ] and with genomic copy number aberrations [ 13 ]. (pubmedcentralcanada.ca)
  • We believe that the translational framework that we have developed will help guide crucial future stakeholder mapping and engagement activities for cffDNA aneuploidy testing and inform novel methods of technology assessment for other developments in the growing field of genomic medicine. (biomedcentral.com)
  • Aneuploidy is defined as an abnormal chromosome number resultant from chromosome mis-segregation during cell division, in both gametes and somatic cells . (fightaging.org)
  • The second section provides in-depth coverage of aneuploidy during embryogenesis together with articles about somatic changes. (zvab.com)
  • 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)
  • In humans, disease conditions have been described in which aneuploidy affects the entire individual or a subset of cells. (aacrjournals.org)
  • This publication investigates the causes of aneuploidy in humans and its effects at different life stages. (zvab.com)
  • Chromosome missegregation leading to aneuploidy was identified as a recurrent defect in many types of cancer cells in the late 1800s ( 1 ). (aacrjournals.org)
  • Because of these findings, as well as his own observations of the pathologic consequences of chromosome missegregation, Theodor Boveri proposed aneuploidy as a cause of cancerous transformation in 1902 ( 2 ) and again in 1914 ( 3 ). (aacrjournals.org)
  • Thus, laggards and micronuclei are indicators of chromosome missegregation and aneuploidy. (jneurosci.org)
  • The purpose of prenatal screening for aneuploidy is to provide an assessment of the woman's risk of carrying a fetus with one of the more common fetal aneuploidies. (nih.gov)
  • To evaluate and compare the diagnostic accuracy of MPSS and TMPS for gNIPT as a first-tier test in unselected populations of pregnant women undergoing aneuploidy screening or as a second-tier test in pregnant women considered to be high risk after first-tier screening for common fetal aneuploidies. (unboundmedicine.com)
  • The test will analyze circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have an increased risk indicator/s for fetal chromosomal aneuploidy and are undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. (clinicaltrials.gov)
  • Tetraploidy, aneuploidy and cancer. (nih.gov)
  • Aneuploidy is one of the most obvious differences between normal and cancer cells. (nih.gov)
  • The spindle checkpoint, aneuploidy, and cancer. (nih.gov)
  • The most prominent disease in which aneuploidy is observed at the cellular level is cancer, a disease of hyper-proliferation. (aacrjournals.org)
  • Aneuploidy has been recognized as a hallmark of cancer for over 100 years, yet no general theory to explain the recurring patterns of aneuploidy in cancer has emerged. (cam.ac.uk)
  • We are now assessing how aneuploidy drives cancer and the potency with which it does so. (cam.ac.uk)
  • the potential therapeutic strategy towards these heterogeneous aneuploidy populations with high adaptability, a root for the clinical challenge in treating aneuploidy diseases such as cancer. (ku.edu)
  • A common response independent of the type of aneuploidy might be exploited as a novel target for cancer therapy. (uni-muenchen.de)
  • In this Commentary, we summarize the experimental evidence supporting the idea that tetraploid cells represent an important intermediate on the route to aneuploidy and cancer. (biologists.org)
  • Further, we have studied the long-term outcome for patients who had an early onset of disease and analysed the expression of cytokeratin 7 and 20 in respect to findings of dysplasia, DNA aneuploidy and colorectal cancer. (diva-portal.org)
  • We conclude that the loss of nuclear envelope structural proteins, such as lamin A/C, may underlie two of the hallmarks of cancer - aberrations in nuclear morphology and aneuploidy. (biomedcentral.com)
  • Aneuploidy is a widely studied prognostic marker in endometrial cancer (EC), however, not implemented in clinical decision-making. (uib.no)
  • The aim of the current study was to investigate whether aneuploidy of chromosome 8 and mutations of circulating tumor cells (CTCs) could predict the response of patients with rectal cancer to preoperative chemoradiotherapy. (spandidos-publications.com)
  • In the present study, we produced an integrated workflow to investigate whether aneuploidy of chromosome 8 and mutations of CTCs can be specific predictors of pathCR to preoperative CRT in patients with rectal cancer. (spandidos-publications.com)
  • Background: Aneuploidy has long been recognized to be associated with cancer. (elsevier.com)
  • However, so far no statistical model has been available quantify the role aneuploidy plays in determining cancer.Methods: We develop a statistical model for testing the association between aneuploidy loci and cancer risk in a genome-wide association study. (elsevier.com)
  • Simulation studies were performed to investigate the statistical behavior of the model.Conclusions: The model will provide a tool for estimating the effects of genetic loci on aneuploidy abnormality in genome-wide studies of cancer cells. (elsevier.com)
  • Aurora kinases, aneuploidy and cancer, a coincidence or a real link? (inserm.fr)
  • However, no causal link between aneuploidy and tumorigenesis can be made based on these observations. (aacrjournals.org)
  • However, aneuploidy due to reduction in BubR1 or Bub3 does not lead to an increase in spontaneous tumorigenesis ( 14 , 16 , 17 ). (aacrjournals.org)
  • The molecular mechanisms behind the age-associated aneuploidy globally point to alterations in the expression levels of genes that are involved in the cell cycle and in the mitotic apparatus . (fightaging.org)
  • Finally, we identified 23 genes whose expression is significantly altered in all aneuploids and which may thus serve as aneuploidy markers. (uni-muenchen.de)
  • The discovery of oncogenes and tumor-suppressor genes gave rise to the idea that an accumulation of specific mutations in these genes might be responsible for tumor development and that aneuploidy is a byproduct, rather than the cause, of transformation. (biologists.org)
  • A prognostic 'aneuploidy signature', linked to low expression of chromosome 15q genes, was identified and validated in TCGA data. (uib.no)
  • Strikingly, complex aneuploidy elicits the same transcriptional changes as trisomy. (uni-muenchen.de)
  • Conclusions: Our analysis shows that despite the variability in chromosome content, aneuploidy triggers uniform transcriptional response in human cells. (uni-muenchen.de)
  • Also, little is known about aneuploidy-related transcriptional alterations, relevant for understanding its role in EC biology, and as therapeutic target. (uib.no)
  • For 144 patients, gene expression data were available to explore aneuploidy-related transcriptional alterations. (uib.no)
  • Here, we introduce a semiconductor sequencing method for preimplantation genetic testing for aneuploidy (PGT-A) with the advantages of short turnaround time, low cost, and high throughput. (jove.com)
  • What is Preimplantation Genetic Testing for Aneuploidy (PGT-A) and how is it useful? (rmany.com)
  • For patients considering the option of in vitro fertilization (IVF), it's likely that your physician will discuss the option of Preimplantation Genetic Testing for Aneuploidy (PGT-A) as part of your treatment plan. (rmany.com)
  • She is one of the primary authors of the forthcoming ASRM Committee Opinion publication, Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts. (sart.org)
  • Rapid aneuploidy screening with fluorescence in-situ hybridisation: is it a sufficiently robust stand-alone test for prenatal diagnosis? (hkmj.org)
  • The extent of aneuploidy followed the prevalence of supernumerary centrosomes within distinct cell populations. (jneurosci.org)
  • Our model should allow studies of the impact of aneuploidy on molecular adaptations and cellular fitness. (asm.org)
  • In cases in which aneuploidy is observed system-wide, the degree of aneuploidy is limited to only one additional chromosome and the consequences for the individual are severe. (aacrjournals.org)
  • Natera is the only laboratory whose PGS test can differentiate between meiotic and mitotic origins of aneuploidy. (prnewswire.com)
  • During the presentation we will discuss experimental approaches and challenges associated with the analysis of aneuploidy in non-tumor tissues and present approaches to overcome the difficulties associated with measuring low frequency aneuploidy. (spectral-imaging.com)
  • the comparison of peak profiles obtained from IUL, placental, and maternal samples confirmed the diagnosis of aneuploidy in all three cases. (hindawi.com)
  • We found the induction of aneuploidy population potentiates adaptability. (ku.edu)
  • In contrast, aneuploidy frequently causes lethality and has been associated with disease, sterility, and tumor formation. (genetics.org)
  • These findings confirm that aneuploidy can act oncogenically and reveal a previously unsuspected role for aneuploidy as a tumor suppressor. (aacrjournals.org)
  • However, the discovery of oncogenes and tumor suppressors in the late 1970s and 1980s introduced alternative potential initiators of transformation and resulted in reduced interest in the aneuploidy hypothesis. (aacrjournals.org)
  • Still others have suggested that aneuploidy promotes tumor progression but not initiation ( 8 ). (aacrjournals.org)
  • Most aneuploidy-inducing drugs have also been shown to cause additional affects, most notably DNA damage ( 9 ), which itself has been causally linked to tumor initiation ( 10 ). (aacrjournals.org)
  • Moreover, the potential aneuploidy markers identified in our analysis might represent novel biomarkers to assess the malignant potential of a tumor. (uni-muenchen.de)
  • Here, we demonstrate that overexpression of Bub1 in mice leads to near-diploid aneuploidies and tumor formation. (rupress.org)
  • Why are entire genome duplications generally well tolerated whereas aneuploidy has severe effects on organismal growth and development? (genetics.org)
  • We can essentially reconstruct key pieces of the genome from an embryonic cell, allowing determination of the aneuploidy status of the embryo, as well as the tracking of single-gene mutations in one single test. (prnewswire.com)
  • Verwandte Artikel zu Aneuploidy: Reprint of: 'Cytogenetic and Genome. (zvab.com)
  • Moreover, aneuploidy in hPSCs may provide a unique platform to analyse the driving forces behind the genome evolution that may eventually lead to cancerous transformation. (whiterose.ac.uk)
  • Of the 65 studies, 42 enrolled pregnant women at high risk, five recruited an unselected population and 18 recruited cohorts with a mix of prior risk of fetal aneuploidy. (unboundmedicine.com)
  • Maternal plasma samples were gathered at 27 prenatal diagnostic centers from women at high risk of fetal aneuploidy who were undergoing diagnostic testing in the late first and early second trimesters. (contemporaryobgyn.net)
  • Within species, different aneuploidies induced similar changes in gene expression, independent of the specific chromosomal aberrations. (pnas.org)
  • To further our understanding of aneuploidy, we examined gene expression data from aneuploid cells from diverse organisms. (pnas.org)
  • It is also unclear how BUB1B or TRIP13 gene mutations or aneuploidy is involved in the other features of the condition. (medlineplus.gov)
  • Aetna considers evaluation of DSCR4 gene methylation in plasma for non-invasive prenatal diagnosis of fetal aneuploidy experimental and investigational because the effectiveness of this approach has not been established. (aetna.com)
  • The alternation of two life stages in different environments (extracellular promastigotes and intracellular amastigotes) offers a unique opportunity to study the impact of environment on aneuploidy and gene expression. (asm.org)
  • Changes in chromosome copy numbers were correlated with the corresponding transcript levels, but additional aneuploidy-independent regulation of gene expression was observed. (asm.org)
  • Leishmania lacks classical regulation of transcription at initiation through promoters, so aneuploidy could represent a major adaptive strategy of this parasite to modulate gene dosage in response to stressful environments. (asm.org)
  • The widespread but mostly moderate gene expression changes caused by aneuploidy lead to quantitative alterations in cell growth under a wide range of environmental conditions. (elifesciences.org)
  • Taranissi M, El-Toukhy T, Gorgy A, Verlinsky Y. Influence of maternal age on the outcome of PGD for aneuploidy in patients with recurrent implantation failure. (springer.com)
  • Staessen C, Platteau P, Van Assche E, Michiels A, Tournaye H, Camus M, Devroey P, Liebaers I, Van Steirteghem A. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled study. (springer.com)
  • Fetal nuchal translucency combined with maternal age is an acceptable first trimester screening test for aneuploidies in twin pregnancies. (unboundmedicine.com)
  • When non-invasive prenatal screening for aneuploidy is available, maternal age alone should not be an indication for invasive prenatal diagnosis in a twin pregnancy. (unboundmedicine.com)
  • It is well known that the rate of aneuploidy increases with maternal age, especially after age 35. (prnewswire.com)
  • According to the study, the increased rate of aneuploidy for individuals carrying two copies of the risk variant is roughly similar to an additional 1.8 years of maternal age for mothers 35 years old or older. (prnewswire.com)
  • aneuploidy simply means that there has been an error in cell division which created a genetic abnormality in the affected sperm. (bellaonline.com)
  • A certain percentage of sperm naturally exhibit aneuploidy, but this percentage increases when men are sub-fertile (1) and undergoing intra-cytoplasmic sperm injection (ICSI). (bellaonline.com)
  • an elevated sperm aneuploidy rate is associated with a greater rate of pregnancy failure. (bellaonline.com)
  • a 2008 study (3) found that folic acid intake, from food and supplements, may have a protective effect against aneuploidy in sperm as it does in oocytes. (bellaonline.com)
  • Sperm aneuploidy in infertile men. (bellaonline.com)
  • The association of folate, zinc and antioxidant intake with sperm aneuploidy in healthy non-smoking men.Young SS1, Eskenazi B, Marchetti FM, Block G, Wyrobek AJ. (bellaonline.com)
  • This issue is accordingly divided into three main sections: the first, 'Aneuploidy at Different Life Stages', provides an overview of abnormalities in sperm and oocytes. (zvab.com)
  • Guttenbach M, Schmid M: Determination of Y chromosomal aneuploidy in human sperm nuclei by nonradioactive in situ hybridization. (springer.com)
  • PL/J males were found to be an important mouse model for both gamete aneuploidy and abnormal sperm-head morphology. (tennessee.edu)
  • In addition, it was found that PL/J males exhibit both genetic and phenotypic complexity in regard to the traits of aneuploidy and abnormal sperm-head morphology. (tennessee.edu)
  • Analysis of chromosome aneuploidy in sperm by fluorescence in situ. (sjweh.fi)
  • Aneuploidy frequency in sperm of fertile men Gordeeva, E. (deepdyve.com)
  • The XY variant prevailed in gonosomal aneuploidy and diploidy and was associated with abnormal chromosomal segregation in meiotic anaphase I. The contribution of human sperm chromosomal imbalance to early embryonic lethality and to some forms of chromosomal abnormalities in the off-spring is discussed. (deepdyve.com)
  • Aetna considers measurement of circulating fetal nucleated red blood cells and extra-villous trophoblastsis for non-invasive prenatal diagnosis of fetal aneuploidy experimental and investigational because the effectiveness of this approach has not been established. (aetna.com)
  • Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal testing. (edu.au)
  • Howard-Bath A, Poulton A, Halliday J, Hui L. Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal testing. (edu.au)