Aneuploidy: 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).Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.In Situ Hybridization, Fluorescence: 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.Preimplantation Diagnosis: 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.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Ploidies: The degree of replication of the chromosome set in the karyotype.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Chromosome Disorders: 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)Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Abnormal Karyotype: A variation from the normal set of chromosomes characteristic of a species.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Mosaicism: 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.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Chromosomes, Human: 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.Nondisjunction, Genetic: 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.Spermatozoa: 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.Aneugens: Agents which affect CELL DIVISION and the MITOTIC SPINDLE APPARATUS resulting in the loss or gain of whole CHROMOSOMES, thereby inducing an ANEUPLOIDY.Polar Bodies: 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)Meiosis: 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.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Down Syndrome: 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)Centrosome: 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 Proteins: 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.Karyotype: 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)Mitosis: 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.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Sex Chromosomes: 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)Spindle Apparatus: 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.Maternal Age: The age of the mother in PREGNANCY.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Genomic Instability: An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.Infertility, Male: The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.Chromosomes: 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)XYY Karyotype: Abnormal genetic constitution in males characterized by an extra Y chromosome.Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Metaphase: 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.Klinefelter Syndrome: 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.).Cytogenetic Analysis: 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.Y Chromosome: 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.Sex Chromosome Aberrations: 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, Neoplasm: DNA present in neoplastic tissue.Primed In Situ Labeling: A technique that labels specific sequences in whole chromosomes by in situ DNA chain elongation or PCR (polymerase chain reaction).Cytogenetics: 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.Aurora Kinases: 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.Oligospermia: 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.Spectral Karyotyping: 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.Maternal Serum Screening Tests: Analysis of the level of specific BIOMARKERS in a pregnant woman's sera to identify those at risk for PREGNANCY COMPLICATIONS or BIRTH DEFECTS.Sperm Injections, Intracytoplasmic: 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).M Phase Cell Cycle Checkpoints: The cellular signaling system that halts the progression of cells through MITOSIS or MEIOSIS if a defect that will affect CHROMOSOME SEGREGATION is detected.Oocytes: 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).Ultrasonography, Prenatal: 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.Aurora Kinase A: 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.Pregnancy Trimester, First: 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.Abortion, Spontaneous: Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.Fetal Diseases: Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.Chromatids: 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)Amniocentesis: 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.p-Fluorophenylalanine: 3-(p-Fluorophenyl)-alanine.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Image Cytometry: 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.Flow Cytometry: 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.Genetic Testing: 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 Transformation, Neoplastic: 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.Cell Cycle Proteins: 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.Tetrasomy: The possession of four chromosomes of any one type in an otherwise diploid cell.Comparative Genomic Hybridization: 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.Nuchal Translucency Measurement: 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.Sex Chromosome Disorders: 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).Blastomeres: 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.X Chromosome: 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.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Centromere: 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.Demecolcine: An alkaloid isolated from Colchicum autumnale L. and used as an antineoplastic.Neoplasms: 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)

*Germline mosaicism

2015). "A Case Report of a Fetus with Mosaic Autosomal Variegated Aneuploidies and Literature Review". Annals of Clinical & ...

*Aneuploidy

However, mitotic aneuploidy may be more common than previously recognized in somatic tissues, and aneuploidy is a ... thus highlighting the role of somatic aneuploidy in carcinogenesis. It has been suggested that aneuploidy might directly ... Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes ... Germline aneuploidy is typically detected through karyotyping, a process in which a sample of cells is fixed and stained to ...

*Chromosome instability

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 ...

*Autosome

Fetuses with aneuploidy of gene-rich chromosomes-such as chromosome 1-never survive to term, and fetuses with aneuploidy of ... Autosomal aneuploidy can also result in disease conditions. Aneuploidy of autosomes is not well tolerated and usually results ... Partial aneuploidy can also occur as a result of unbalanced translocations during meiosis. Deletions of part of a chromosome ... Autosomal Aneuploidy. Humana Press. pp. 133-164. ISBN 978-1-58829-300-8. Savva, George M.; Morris, Joan K.; Mutton, David E.; ...

*SRC1

... mutant has aneuploidy tolerance. SRC1 at yeastgenome.org.. ...

*Angelika Amon

Amon's aneuploidy research has potential applications to cancer research. "HHMI Scientist Abstract: Angelika Amon". Howard ... Williams, Bret; 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 demonstrated that CDC28 ...

*BUB1

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 ...

*Spindle checkpoint

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, ... Weaver, B. A.A.; Cleveland, D. W. (2009). "The role of aneuploidy in promoting and suppressing tumors". The Journal of Cell ... Examples include: In cancer cells, aneuploidy is a frequent event, indicating that these cells present a defect in the ...

*Polyploid

... the distinction between aneuploidy and polyploidy is that aneuploidy refers to a numerical change in part of the chromosome set ... Aneuploidy is more common. Polyploidy occurs in humans in the form of triploidy, with 69 chromosomes (sometimes called 69,XXX ...

*Human genetic variation

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 ...

*Entosis

Aneuploidy, a condition in which non-disjunction 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 ... Apoptosis Autoschizis Necrosis Janssen, Aniek; Rene H. Medema (1 March 2011). "Entosis: aneuploidy by invasion". Nature Cell ...

*List of OMIM disorder codes

GLB1 Mosaic variegated aneuploidy syndrome; 257300; BUB1B Mowat-Wilson syndrome; 235730; ZEB2 Muckle-Wells syndrome; 191900; ...

*Dicentric chromosome

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. ...

*Uniparental disomy

Aneuploidy Robinson WP (May 2000). "Mechanisms leading to uniparental disomy and their clinical consequences". BioEssays. 22 (5 ...

*Genetics of Down syndrome

Aneuploidy BBC News (22 September 2005). "Down's syndrome recreated in mice". Retrieved 2006-06-14. For a description of human ... "aneuploidy rescue". There is considerable variability in the fraction of cells with trisomy 21, both as a whole and tissue-by- ...

*Paclitaxel

Bharadwaj, Rajnish; Yu, Hongtao (2004). "The spindle checkpoint, aneuploidy, and cancer". Oncogene. 23 (11): 2016-27. doi: ...

*Mad1

Bharadwaj R, Yu H (2000). "The spindle checkpoint, aneuploidy, and cancer". Oncogene. 23 (11): 2016-27. doi:10.1038/sj.onc. ... Mismatches in chromosome number (aneuploidies) during meiosis are responsible for human diseases like Down's syndrome and also ...

*Transmission electron microscopy DNA sequencing

2008). "Aneuploidy: Cells Losing Their Balance". Genetics. 179 (2): 737-46. doi:10.1534/genetics.108.090878. PMC 2429870 . PMID ...

*Trisomy

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". Retrieved 2007-12-23. Rieger, R ... O'Connor, Clare (2008). "Chromosomal Abnormalities: Aneuploidies". Nature Education. 1 (1): 172. ...

*Diana W. Bianchi

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): ...

*Nondisjunction

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: ...

*Down syndrome

"Noninvasive prenatal diagnosis of fetal aneuploidy using cell-free fetal nucleic acids in maternal blood" (PDF). United ... "DNA sequencing versus standard prenatal aneuploidy screening". The New England Journal of Medicine. 370 (9): 799-808. doi: ...

*Spermatozoon

Increased aneuploidy of spermatozoa often occurs in association with increased DNA damage. DNA fragmentation and increased in ... Aneuploidy Non-disjunction "Timeline: Assisted reproduction and birth control". CBC News. Retrieved 2006-04-06. Smith, D.J. ( ... Governini L, Guerranti C, De Leo V, Boschi L, Luddi A, Gori M, Orvieto R, Piomboni P (2014). "Chromosomal aneuploidies and DNA ... 3 (1): 1-7. Templado C, Uroz L, Estop A (2013). "New insights on the origin and relevance of aneuploidy in human spermatozoa". ...

*Aneugen

Governini L, Guerranti C, De Leo V, Boschi L, Luddi A, Gori M, Orvieto R, Piomboni P (2015). "Chromosomal aneuploidies and DNA ... An aneugen is a substance that causes a daughter cell to have an abnormal number of chromosomes or aneuploidy. A substance's ... Templado C, Uroz L, Estop A (2013). "New insights on the origin and relevance of aneuploidy in human spermatozoa". Mol. Hum. ... Exposure of males to lifestyle, environmental and/or occupational hazards may increase the risk of spermatozoa aneuploidy. ...

*Cell-free fetal DNA

Allyse, M.; Sayres, L. C.; King, J. S.; Norton, M. E.; Cho, M. K. (2012). "Cell-free fetal DNA testing for fetal aneuploidy and ... Fan, H. C.; Blumenfeld, Y. J.; Chitkara, U.; Hudgins, L.; Quake, S. R. (2008). "Noninvasive diagnosis of fetal aneuploidy by ... Point mutations, loss of heterozygosity and aneuploidy can be detected in a single PCR step. Digital PCR can differentiate ... Massive parallel sequencing and digital PCR for fetal aneuploidy detection can be used without restriction to fetal-specific ...
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 ...
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 ...
Aneuploidy occurs in 0.3% of newborns, 4% of stillbirths, and more than 35% of all human spontaneous abortions. Human gametogenesis is uniquely and gender-specific susceptible to errors in chromosome segregation. Overall, between 1% and 4% of sperm and as many as 20% of human oocytes have been estimated by molecular cytogenctic analysis to be aneuploid. Maternal age remains the paramount aetiological factor associated with human aneuploidy. The majority of extra chromosomes in trisomic offspring appears to be of maternal origin resulting from nondisjunction of homologous chromosomes during the first meiotic division. Differences in the recombination patterns between male and female meiosis may partly account for the striking gender- and chromosome-specific differences in the genesis of human aneuploidy, especially in aged oocytes. Nondisjunction of entire chromosomes during meiosis I as well as premature separation of sister chromatids or homologues prior to meiotic anaphase can contribute to ...
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.
Author Summary The transmission of an abnormal chromosome complement from the gametes to the early embryo, a condition called aneuploidy, is a major cause of congenital birth defects and pregnancy loss. Human embryos are particularly susceptible to aneuploidy, which in the majority of cases is the result of abnormal meiosis in the female gamete. However, the molecular mechanisms involved in the onset of aneuploidy in mammalian oocytes are not fully understood. We show here that, the α-thalassemia/mental retardation X-linked protein (ATRX) is essential for the maintenance of chromosome stability during female meiosis. ATRX is required to recruit the transcriptional regulator DAXX to pericentric heterochromatin at prophase I of meiosis. Notably, lack of ATRX function at the metaphase II stage interferes with the establishment of chromatin modifications associated with chromosome condensation leading to segregation defects, chromosome fragmentation, and severely reduced fertility. Our results provide
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 ...
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,
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 ...
article{1033c41a-c811-43fa-9f6c-62a1aafd278c, abstract = {The role of structural genetic changes in human disease has received substantial attention in recent decades, but surprisingly little is known about numerical chromosomal abnormalities, even though they have been recognized since the days of Boveri as partaking in different cellular pathophysiological processes such as cancer and genomic disorders. The current knowledge of the genetic and epigenetic consequences of aneuploidy is reviewed herein, with a special focus on using mosaic genetic syndromes to study the DNA methylation footprints and expressional effects associated with whole-chromosomal gains. 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.}, author = {Davidsson, Josef}, issn = {1750-192X}, language = {eng}, number = {1}, pages = ...
Protein chaperones are intricately involved in the maturation of a protein - from a polypeptide exiting the ribosome to acquiring the appropriate three-dimensional structure, to assembly into the appropriate complexes. Chaperones have been classified into several families according to their type of enzymatic activity, the co-chaperones they require and the clients that they aid in folding (Hartl et al., 2011). One initial study assessed the impact of aneuploidy on the ubiquitous chaperone Hsp90 in budding yeast. Hsp90 is a highly conserved chaperone that is essential for the survival of eukaryotic cells. It has been shown to have a limited repertoire of protein clients, most of which are kinases and signal transduction proteins (McClellan et al., 2007; Franzosa et al., 2011). Using assays that monitor Hsp90 activity in vivo, it was shown that 8 out of 11 disomes (haploid + one chromosome) tested showed reduced Hsp90 folding activity (Oromendia et al., 2012). This was surprising given that Hsp90 ...
Li et al. (2009) designed a Cdc20 mutant that would not interact with Mad2 by mutating to alanine two charged residues and a proline in the Mad2-binding site. Interestingly, this mutant (Cdc20AAA) also displays significantly reduced binding to both of its sites on BubR1, so much so that overexpression of BubR1 cannot rescue the mitotic checkpoint defect in Cdc20AAA/AAA cells. Thus, Cdc20AAA cannot be inhibited by the mitotic checkpoint. As predicted, its presence results in aneuploidy from chromosomal instability (CIN), the recurrent missegregation of chromosomes during multiple divisions. Mice expressing the Cdc20AAA mutant develop tumors rapidly, with 50% of mice developing tumors, some palpable as early as 7 mo.. Earlier analyses of mice with reduced levels of mitotic checkpoint components have come to divergent outcomes vis a vis aneuploidy driving tumorigenesis (Fig. 1). Reduced levels of Bub3 (Baker et al., 2006) and BubR1 (Baker et al., 2004) do not produce an increase in spontaneous ...
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 ...
Aneuploidy, an abnormal chromosome number, is a common characteristic of tumor cells, occurring in ~85% of all human cancers. Aneuploidy frequently arises due t...
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.
Oxford, UK - 4 June 2013 - Oxford Gene Technology (OGT), provider of innovative genetics research and biomarker solutions to advance molecular medicine, has announced the launch of a new pre-implantation genetic screening (PGS) array aimed at improving the chances of successful in-vitro fertilisation (IVF). The array detects chromosome number abnormalities (aneuploidy) across all 24 human chromosomes using DNA amplified from a single cell from an early-stage embryo. This allows selection of an embryo with a normal chromosomal content. The number of women receiving IVF has increased steadily, however the percentage of IVF treatments resulting in viable pregnancies is still comparatively low with chromosomal aneuploidy a leading genetic cause of unsuccessful IVF. It has been reported that 75% of eggs in women over 37 and 23% of eggs in younger women are chromosomally abnormal1. OGTs CytoSure™ Single Cell Aneuploidy array is the first commercially available oligonucleotide aCGH product designed ...
Aneuploidy with chromosome instability is a cancer hallmark. We studied chromosome 7 (Chr7) copy number variation (CNV) in gliomas and in primary cultures derived from them. We found tumor heterogeneity with cells having Chr7-CNV commonly occurs in gliomas, with a higher percentage of cells in high-grade gliomas carrying more than 2 copies of Chr7, as compared to low-grade gliomas. Interestingly, all Chr7-aneuploid cell types in the parental culture of established glioma cell lines reappeared in single-cell-derived subcultures. We then characterized the biology of three syngeneic glioma cultures dominated by different Chr7-aneuploid cell types. We found phenotypic divergence for cells following Chr7 mis-segregation, which benefited overall tumor growth in vitro and in vivo. Mathematical modeling suggested the involvement of chromosome instability and interactions among cell subpopulations in restoring the optimal equilibrium of tumor cell types. Both our experimental data and mathematical modeling
Learn about the causes, symptoms, diagnosis & treatment of X&Y (Sex) Chromosome variations. See how our eXtraordinarY kids clinic can help.
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 ...
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 ...
... 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.
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 problem with this is that most higher organisms with additional chromosomes are toast. Extra chromosomes can be broken down into aneuploidy and polyploidy. Aneuploidy refers to having an extra copy of a particular chromosome; polyploidy is an extra copy of your entire genome. A good example of aneuploidy is trisomy 23, in which a person has an extra copy of their 23rd chromosome, resulting in the condition known as Downs Syndrome. But if Leeloo wanted to have the equivalent of 8 DNA strands or 4 double helices, she would want extra copies of her entire genome. 1 set of chromosomes = 23 = "haploid"; humans are diploid (46 chromosomes). If Leeloo wanted 4 times the amount of DNA of the rest of us, she would have to be octoploid (I dont even know if I spelled that right or if that even exists in nature, even with synthetic nanotubes.) Some plants are tetraploid, which means 4 sets of chromosomes. But for most humans, that is a bad thing. In order to better understand the cause of ...
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 ...
An 11 year old boy with short stature, learning difficulties, and no obvious facial anomalies has a ring (3)(p23q29) formed by a break in the short arm at 3p23 and subsequent fusion with 3qter. A second rearrangement involving translocation of the displaced 3p23--,pter segment to chromosome 6 at 6pter is non-reciprocal with no obvious loss of distal 6pter material. The involvement of one chromosome in two separate rearrangements is uncommon. The patients relatively mild phenotype appears to be associated with the "ring syndrome" and ring instability in division rather than from any segmental aneuploidy resulting from the presence of the two rearrangements.. ...
... 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 ...
CA of the fetus can result in numerous complications, including abnormal phenotype (1/150 of live births)(3), miscarriage in the first trimester (50% of recognized miscarriages), and stillbirth in the second trimester (5% of stillbirths)(4). Detection of CA in the prenatal period may help to decrease these complications. Currently, prenatal screening and/or diagnostic testing for aneuploidy is offered irrespective of age or risk(5). In obstetric practice, an abnormal result of aneuploidy screening replaced maternal age (35 years or over) as the most common indication for invasive procedures. Besides, structural abnormalities comprise up to 12% of indications in most studies(6,7). In our study, consistent with the literature, the most common indication for invasive procedures was an abnormal result of aneuploidy screening for trisomy 21, which was followed by maternal age and fetal structural abnormality, with rates of 69%, 11.25%, and 10.5%, respectively. These indications can vary, probably due ...
Andthepupmakes3: Well, I can tell you what I know: Women are born with all the eggs theyll ever have. So as a woman gets older, her eggs get older and have a higher likelihood of having the wrong number of chromosomes. Therefore, the risk of aneuploidy gets higher with increasing maternal age. Its something that increases over your lifetime and theres no magic line that you cross to when its "high" but its why you hear so much about risks for problems with the baby or miscarraige as women get older. What I dont know is what "egg quality" means. How do they define that?. Generally aneuploidy is a random event. The human brain has a really hard time with the concept of "random". We like patterns and will find patterns, even when none exists. So keep that in mind. The awareness of miscarriage and aneuploidy has certainly gone up a lot in the last decade, but I dont think that the actual rates have changed. People are just paying closer attention and catching more early pregnancies that might ...
The vast majority of human cancers have abnormal numbers of chromosomes, known as aneuploidy. However, the molecular basis of aneuploidy and its role in tumor d...
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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.. ...
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 ...
The decision to leave the United Nations educational, scientific, and cultural agency was spurred by what American officials say is the organizations anti-Israel bias and lack of commitment to reform.. 0 Comments. ...
Sigma-Aldrich offers abstracts and full-text articles by [S Dawar, Y Lim, J Puccini, M White, P Thomas, L Bouchier-Hayes, D R Green, L Dorstyn, S Kumar].
A new study has demonstrated that an optimized method of comprehensive chromosomal screening (CCS) the first technology capable of accurate aneuploidy screening (screening of embryos for abnormal number of chromosomes) of all 24 chromosomes in just four hours.
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 ...
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 ...
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 ...
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 ...
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
True polyploidy rarely occurs in humans, although it occurs in some tissues (especially in the liver). Polyploidy refers to a numerical change in a whole set of chromosomes. Organisms in which a particular chromosome, or chromosome segment, is under- or overrepresented are said to be aneuploid (from the Greek words meaning "not," "good," and "fold"). Therefore the distinction between aneuploidy and polyploidy is that aneuploidy refers to a numerical change in part of the chromosome, whereas polyploidy refers to a numerical change in the whole set of chromosomes. [2]: Cytogenetic Variation (p109)] Aneuploidy occurs in humans in the form of triploidy (69,XXX) and tetraploidy (92,XXXX), not to be confused with 47,XXX or 48, XXXX aneuploidy. Triploidy, usually due to polyspermy, occurs in about 2-3% of all human pregnancies and ~15% of miscarriages. The vast majority of triploid conceptions end as miscarriage and those that do survive to term typically die shortly after birth. In some cases survival ...
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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.
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.
MyDocHub explains about numerical abnormalities overview of trisomies and monosomies including how they tend to develop, causes, symptoms, diagnosis and treatments on its trusted online health guides.
ABSTRACT: Noninvasive prenatal screening that uses cell-free DNA from the plasma of pregnant women offers tremendous potential as a screening method for fetal aneuploidy. A number of laboratories have validated different techniques for the use of cell-free DNA as a screening test for fetal aneuploidy. All tests have a high sensitivity and specificity for trisomy 18 and trisomy 21, regardless of which molecular technique is used. Women whose results are not reported, indeterminate, or uninterpretable (a "no call" test result) from cell-free DNA screening should receive further genetic counseli... ...
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 ...
Genome stability is usually examined using selective assays that are specific for certain loci or certain chromosomal regions. This constraint exists for two reasons. First, in general, the level of genome instability is not high enough to be readily analyzed by nonselective methods. Second, until recently, methods did not exist to allow a whole-genome analysis of genetic instability. In our study, we have used DNA microarrays and CHEF gel analysis to study the genetic instability associated with mutations in the two related genes TEL1 and MEC1 in subcultured derivatives. Our conclusions are different from those predicted by previous studies in which more selective methods have been employed. Even in our experiments, however, it is possible that the types of chromosome rearrangements that were detected were influenced by selection for those that had the least deleterious consequences for cell growth.. In two previous assays of genome stability in the single mutants and the tel1 mec1 double ...
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, ...
The biological phenomenon of cell fusion in a cancer context continues to be a matter of controversial debates. rendering it virtually impossible to recognize a human tumor cell being a tumor crossbreed cell clearly. In todays review we will summarize the data helping the cell fusion in tumor idea. Furthermore we will refine the cell fusion hypothesis by giving proof that cell fusion is certainly a potent inducer of aneuploidy genomic instability and most likely even chromothripsis suggesting that cell fusion like mutations and aneuploidy might be an inducer of a mutator phenotype. Finally we will show that "accidental" tissue repair processes Taurine during malignancy therapy could lead to the origin of therapy resistant malignancy hybrid stem cells. and studies verified Aichels visionary concept demonstrating that tumor cells could spontaneously fuse with tumor cells or other cells thereby giving rise to hybrid cells exhibiting properties of both parental cells as well as novel properties ...
The content of cellular DNA in ejaculates from eight patients with carcinoma in situ of the testis and 26 controls without evidence of testicular neoplasia was studied by flow cytometry. An aneuploid cell population with a ploidy value similar to that found for carcinoma in situ cells was detected in seminal fluid from four of the eight men with carcinoma in situ but in none of the controls. One year after orchidectomy or local irradiation in these four men no aneuploid cells were found in the semen.. These findings show that a detectable proportion of malignant germ cells may be released into the seminal fluid of patients with carcinoma in situ of the testis. Analysis of seminal fluid may therefore aid in screening for early neoplasia of the testis.. ...
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].
The Mammalian Phenotype (MP) Ontology is a community effort to provide standard terms for annotating phenotypic data. You can use this browser to view terms, definitions, and term relationships in a hierarchical display. Links to summary annotated phenotype data at MGI are provided in Term Detail reports.
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 ...
213. Chen LC; Neubauer A; Kurisu W; Waldman FM; Ljung BM; Goodson W; Goldman ES; Moore D; Balazs M; Liu E; Mayall BH; Smith HS; Loss of Heterozygosity on the Short Arm of Chromosome-17 Is Associated with High Proliferative Capacity and Dna Aneuploidy in Primary Human Breast-Cancer. Proceedings of the National Academy of Sciences of the United States of America 88: 3847-3851, 1991, IF: 10.300 ...
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...
Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal abnormality. In humans, in every cell of our bodies, we typically will have 46 chromosomes. The only exception to this is that our egg and sperm cells will only have half the number of chromosomes . The 46 chromosomes can…
Histone Acetyltransferase Catalytic Subunit Of NuA3 Complex; Acetylates Histone H3, Involved In Transcriptional Silencing; Homolog Of The Mammalian MOZ Proto-oncogene; Mutant Has Aneuploidy Tolerance; Sas3gcn5 Double Mutation Is Lethal
Mannaert , An and Downing, Tim and Imamura, Hideo and Dujardin, Jean-Claude (2012) Adaptive mechanisms in pathogens: universal aneuploidy in Leishmania. Trends in Parasitology , 28 (9). pp. 370-376. ISSN 1471-4922 ...
Article title: Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYY. Authors: Nicole R. Tartaglia, MD; Natalie Ayari, BA; Christa Hutaff-Lee, PhD; Richard Boada, PhD. Date of Publication: May 2012. Read more. Please share this article with your healthcare providers and with other professionals (therapists, school support staff and administrators, etc.). ...
Mitotic chromosome malsegregation produces aneuploidy and genome instability. An increasing number of studies have shown that abnormalities such as aneuploidy and whole-chromosome loss of heterozygosity are commonly present in tumor cells. This suggests that chromosome instability and aneuploidy may play a critical role in tumor development and progression ( Sen, 2000).. The integrity of the cell and of its genome and the correct accomplishment of cellular processes depend on the existence of control points in the cell cycle. These control mechanisms, called `checkpoints, inhibit the transition to the next cell cycle phase if the events of the previous phase have not been correctly executed. A mitotic checkpoint has been identified that controls the metaphase to anaphase transition. A large number of studies have demonstrated that in vertebrates the kinetochore plays an active role in the mitotic checkpoint pathway and that microtubule accumulation at the kinetochore and/or tension that ...
The aim of the present study was to assess whether exposure to the combination of an extremely low frequency magnetic field (ELF-MF; 60 Hz, 1 mT or 2 mT) with a stress factor, such as ionizing radiation (IR) or H2O2, results in genomic instability in non-tumorigenic human lung epithelial L132 cells. To this end, the percentages of G2/M-arrested cells and aneuploid cells were examined. Exposure to 0.5 Gy IR or 0.05 mM H2O2 for 9 h resulted in the highest levels of aneuploidy; however, no cells were observed in the subG1 phase, which indicated the absence of apoptotic cell death. Exposure to an ELF-MF alone (1 mT or 2 mT) did not affect the percentages of G2/M-arrested cells, aneuploid cells, or the populations of cells in the subG1 phase. Moreover, when cells were exposed to a 1 mT or 2 mT ELF-MF in combination with IR (0.5 Gy) or H2O2 (0.05 mM), the ELF-MF did not further increase the percentages of G2/M-arrested cells or aneuploid cells. These results suggest that ELF-MFs alone do not induce ...
The aim of this study was to gain a comprehensive understanding of how viable SAN progeny produces higher levels of xylanases [17]. We focused on candidate TFs exhibiting differential expression levels between SAN and euploid progeny (six TF-encoding genes: ID in jgi,Trire2: 106677, 65854, 111446, 68930, 111515, 36913), as well as another candidate TF, SxlR. We confirmed that SxlR is a negative regulator of GH11 family xylanases. However, overexpression of the other six tested TFs had no effect on the xylanase activity. It seems that the segmental aneuploidy did not result in a change in sxlr gene copy number; however, it is still unknown whether segmental aneuploidy affects the expression of sxlr in SAN progeny.. Recently, another negative regulator of hemi-cellulase, xylanase promoter-binding protein 1 (Xpp1) was reported in T. reesei [18]. Xpp1 regulates transcription of hemi-cellulase genes only at later stages of cultivation. There was no significant difference in xylanase activity between ...
Errors in chromosome segregation occurring during human oogenesis and early embryogenesis are very common. Meiotic chromosome development during oogenesis is subdivided into three distinct phases. The crucial events, including meiotic chromosome pairing and recombination, take place from around 11 weeks until birth. Oogenesis is then arrested until ovulation, when the first meiotic division takes place, with the second meiotic division not completed until after fertilization. It is generally accepted that most aneuploid fetal conditions, such as trisomy 21 Down syndrome, are due to maternal chromosome segregation errors. The underlying reasons are not yet fully understood. It is also clear that superimposed on the maternal meiotic chromosome segregation errors, there are a large number of mitotic errors taking place post-zygotically during the first few cell divisions in the embryo. In this chapter, we summarise current knowledge of errors in chromosome segregation during oogenesis and early ...
Chromosome abnormalities are common in oocytes derived from patients undergoing IVF treatment. The proportion of oocytes displaying aneuploidy is closely related to maternal age and may exceed 60% in patients over 40 years old. However, little information currently exists concerning the incidence of such anomalies in oocytes derived from young fertile women. A total of 121 metaphase II oocytes and their corresponding first polar bodies (PB) were analysed with the use of a comprehensive cytogenetic method, comparative genomic hybridization (CGH). The oocytes were donated from 13 young women (average age 22 years) without any known fertility problems. All oocytes were mature at the time of retrieval and were unexposed to spermatozoa. A low aneuploidy rate (3%) was detected. These results clearly indicate that meiosis I segregation errors are not frequent in oocytes of young fertile women. The higher aneuploidy rates reported in embryos derived from donor oocytes could be due to aggressive hormonal
Chromosome abnormalities are common in oocytes derived from patients undergoing IVF treatment. The proportion of oocytes displaying aneuploidy is closely related to maternal age and may exceed 60% in patients over 40 years old. However, little information currently exists concerning the incidence of such anomalies in oocytes derived from young fertile women. A total of 121 metaphase II oocytes and their corresponding first polar bodies (PB) were analysed with the use of a comprehensive cytogenetic method, comparative genomic hybridization (CGH). The oocytes were donated from 13 young women (average age 22 years) without any known fertility problems. All oocytes were mature at the time of retrieval and were unexposed to spermatozoa. A low aneuploidy rate (3%) was detected. These results clearly indicate that meiosis I segregation errors are not frequent in oocytes of young fertile women. The higher aneuploidy rates reported in embryos derived from donor oocytes could be due to aggressive hormonal
Cell cycle variations and DNA aneuploidy, were investigated in different phases of azoxymethane (AOM)-induced colon carcinogenesis in rats by flow cytometry. K-ras gene mutations (transitions Gright curved arrow A) were frequently detected in aberrant crypt foci (ACF) initial pre-neoplastic lesions. The fraction of cells in the G2M-phase of the cell cycle was higher in ACF compared to the normal mucosa of control rats. A similar modification of the cell cycle was found in adenomas and adenocarcinomas but, unexpectedly, also in morphologically normal mucosa from AOM-treated animals indicating that AOM treatment permanently modifies cell cycle control in rat colon mucosa. These alterations, however, were not associated with DNA aneuploidy as reported in human sporadic colorectal cancer, suggesting that tumour development in AOM-treated rats is less dependent on aneuploidy.. ...
Principal Investigator:TAKIHARA Hiroshi, Project Period (FY):1992 - 1993, Research Category:Grant-in-Aid for General Scientific Research (C), Research Field:Urology
Research done in Prof. Sharon Bickels lab has demonstrated that oxidative damage causes a premature loss of sister chromatid cohesion and an increase in chromosome segregation errors in Drosophila oocytes during meiosis. In women, the probability of miscarriage or Down Syndrome increases dramatically with age. Studies of maternal age effect indicate that errors in female meiosis contribute significantly to this age-related effect. The research done by the Bickel lab demonstrates that if oxidative damage contributes to maternal age effect then reducing oxidative damage could be a strategy for reducing chromosome segregation errors during meiosis.. Professor Sharon Bickel, MCB graduate student Adrienne Perkins, Class of 2013 undergraduate researcher Thomas Das and second year MCB graduate student Lauren Panzera contributed to this work. These findings were published in the Proceeding of the National Academy of Sciences: http://www.pnas.org/content/early/2016/10/12/1612047113.full ...
Aneuploidy is a well recognised feature of human tumours, but the investigation of its biological and clinical significance has been hampered by technological constraints. Quantitative DNA analysis reflects the total chromosomal content of tumour cells and can now be determined rapidly and reliably using flow cytometry; this has resulted in renewed interest in its potential clinical applications. This article reviews the accumulating evidence that tumour ploidy reflects the biological behaviour of a large number of tumour types and that diploid tumours in particular have a relatively good prognosis. The measurement of tumour ploidy is likely to become a valuable adjunct to the clinical and histopathological assessment of cancers.. ...
Owing to a unique set of attributes, human pluripotent stem cells (hPSCs) have emerged as a promising cell source for regenerative medicine, disease modeling and drug discovery. Assurance of genetic stability over long term maintenance of hPSCs is pivotal in this endeavor, but hPSCs can adapt to life in culture by acquiring non-random genetic changes that render them more robust and easier to grow. In separate studies between 12.5% and 34% of hPSC lines were found to acquire chromosome abnormalities over time, with the incidence increasing with passage number. The predominant genetic changes found in hPSC lines involve changes in chromosome number and structure (particularly of chromosomes 1, 12, 17 and 20), reminiscent of the changes observed in cancer cells. 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. We point to the need for comprehensive ...
Two major checkpoints have been noted during mitosis, one is the G2M checkpoint and the other is the metaphase checkpoint. The G2M checkpoint works as the cells enter mitosis. It closely monitors microtubule dependant events, such as the separation of duplicated centrosomes at G2, and delays the G2-M transition in the presence of microtubule poisons. The metaphase checkpoint monitors the attachment of the mitotic spindle to kinetochores. In the presence of a single unattached kinetochore, the metaphase checkpoint halts the separation of sister chromatids and thereby provides additional time for spindle attachment. Thus, the metaphase checkpoint ensures a high fidelity of chromosome separation and prevents aneuploidy during mitosis. Figure 1 explains the mechanism of the metaphase checkpoint. Six checkpoint gene products (Mad1, Mad2, Mad3, Bub1, Bub3, and Mps1) appear to operate as checkpoint sensors and signal transducers.43,44 It is presumed that BubR1 is the functional orthologue of yeast ...
Article # WP201012-VNT Issue Date 10-December-2010 W H I T E P A P E R The Clinical Usefulness of Volume NT™ Using Three-dimensional (3D) Ultrasound (US) Hye-Sung Won, M.D.*, Min-Kyung Hyun, M.D.*, Hyangsuk Lee, RDMS* Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea INTRODUCTION & OBJECTIVES Nuchal translucency (NT) is a highly sensitive screening tool for both fetal aneuploidy and congenital structural anomalies including congenital heart defects; it is gaining in popularity and acceptance among both patients and clinicians.¹ In combination with maternal serum, PAPP-A and free beta-hCG, increased NT have been demonstrated to provide efficient Downs syndrome risk assessment, with a detection rate of 80-87% (5% false-positive rate), and it also allows earlier diagnosis of fetal aneuploidy.²-ˉ³ A correct NT measurement is determined by the quality of the image, the magnification, the angle of insonation, the B-mode image ...
So far classical prenatal detection of chromosome aberrations has been limited to the evaluation of metaphase by means of time-consuming cytogenetic techniques. The MultiVision PGT test enables a simultaneous detection of aneuploidies of chromosomes 13 ,18, 21, X, and Y, even 24 h after amniocentesis. In the presented case, this test detected prenatally a chromosomal mosaicism 69,XYY[35]/46,XY[65]. This result was not confirmed after birth, by the same test on blood smear. The discrepancy is difficult to explain ...
Mutations of the KRAS2 protoncogene and inactivation of the TP53 oncosuppressor gene have been suggested to contribute to chromosomal instability (CIN) and aneuploidy in colorectal cancer (CRC). Previous work has also shown that the degree of DNA ploidy [DNA index (DI)], as obtained by flow cytometry in CRC, is non-randomly distributed and, in particular, that DI near-diploid and near-triploid values are well separated by a low-probability valley region. At present, it is not known whether a relationship exists between DI and the mutational status of KRAS2 and TP53. Multiple samples obtained from 35 human sporadic CRCs have been used to provide nuclei suspensions for flow cytometric analysis and sorting of specific DI subpopulations. Sorted nuclei were then used to analyze the high-microsatellite-instability (MSI-H) phenotype and the mutation spectrum of the KRAS2 and TP53 genes. A single MSI-H case was detected. There were 6 DNA diploid (DI = 1) and 29 aneuploid (DI not equal 1) CRCs, with the DI
1086 Normal cells in culture have a limited lifespan as they undergo two mortality checkpoints known as senescence (M1) and crisis (M2). We used an epithelial cell strain called ML-10 derived from benign ovarian cystadenomas. The cells were transfected with SV40 Large T Antigen, thus allowing them to bypass the M1 mortality checkpoint but not M2. Crisis occurred after 45 to 50 population doublings in vitro and was characterized by widespread apoptosis resulting from accumulation of severe numerical chromosomal changes. These chromosomal changes were first manifested as tetraploidy, followed by aneuploidy. We hypothesized that tetraploidy was due to G2 arrest and that the ensuing aneuploidy developed in cells that had overcome such arrest and re-initiated a new cycle. This is supported by the fact that treatment with caffeine, which is known to abrogate cells in the G2/M phase during cell cycle progression, caused a decrease in the percentage of cells undergoing G2/M arrest, thereby resulting in ...
Some people are born with mutations that predispose them to aneuploidy. One such condition is mosaic variegated aneuploidy (MVA) in which patients lack a small part of the BubR1 protein. It is a very rare condition, but those affected can suffer from microcephaly (smaller than normal head), restricted growth, problems with the brain and nervous system, developmental delay, mental disability and seizures, as well as having an increased risk of cancer.. Dr Draviam said: It will be useful to see what are the levels of AuroraB kinase in MVA patients who lack portions of the BubR1 gene in their DNA. To counteract the loss of BubR1 in these patients, perhaps Aurora-B could be reduced. Also we are curious to know whether chromosomes are captured normally in patients lacking BubR1-bound phosphatase. This may reveal novel ways to tackle additional changes in chromosome numbers seen in patients who suffer from BubR1 mutations.. In fertility treatments, it will be useful to study the levels of these two ...
Cancer cells often acquire resistance to therapy due to genetic mutations. However, without drug selection, these mutations would likely have a fitness cost to cancer cells and we hypothesize that the severity of this fitness cost is correlated with the effectiveness of drug treatment, with more effective treatments leading to more drastic genetic lesions. The size of a genetic lesion often correlates with its fitness cost - point mutation having little cost, aneuploidy having a large cost. However, aneuploidy is fast because the search space is only 46 gains or losses, while point mutations are slow with billions of base pairs to search before finding the right mutations. We designed experimental and computational systems to understand the selection pressures that would lead to resistance by these different genetic mechanisms. Mice were implanted with xenograft tumors from the HT1080 fibrosarcoma cell line that were heterozygous for DR5 (TNFRSF10B) and extremely sensitive to treatment with a ...
OBJECTIVE: The Philadelphia (Ph) chromosome, consisting of the t(9;22)(q34;q11) translocation, is observed in ~90% of patients with chronic myeloid leukemia (CML). Variant Ph translocations are observed in 5%-10% of CML patients. In variant translocations 3 and possibly more chromosomes are involved. Herein we report 6 CML patients with variant Ph translocations.METHODS: Bone marrow samples were examined using conventional cytogenetic meth ods. Fluorescence in situ hybridization (FISH) with whole-chromosome paints and BCR-ABL 1D probes were used to confirm and/or complement the findings, and identify rearrangements beyond the resolution of conventional cytogenetic methods. RESULTS: Variant Ph translocations in the 6 patients were as follows: t(7;22)(p22;q11), t(9;22;15)(q34;q11;q22), t(15;22)(p11;q11), t(1;9;22;3)(q24;q34;q11;q21), t(12;22)(p13;q11), and t(4;8;9;22)(q11;q13;q34;q11).CONCLUSION: Among the patients, 3 had simple and 3 had complex variant Ph translocations. Two of the presented ...
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. ...
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Multicolor fluorescence in-situ hybridization (M-FISH) techniques provide color karyotyping that allows simultaneous analysis of numerical and structural abnormalities of whole human chromosomes. Chromosomes are stained ...
CHRTI : Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities                                                                                                       Subsequent chromosome analysis when results from peripheral blood are inconclusive
CHFXC : Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements
Results. Comparison of sample recoveries for chromosome 3 fluorescence in-situ hybridization assay and mapping array analysis. Of the 59 patients who underwent FNAB, FISH results were obtained in 38 (64%) of the cases. Parallel, pooled aspirates (range; 2-4) from each patient were processed for simultaneous isolation of DNA and RNA, and the nucleic acid recoveries were determined. Where DNA recoveries exceeded 350 ng, samples were determined to be adequate for mapping array analysis. Of the 59 patients who underwent FNAB, 49 (83%) of the cases yielded adequate DNA, ranging 380-3040 ng. Six of these 49 failed to generate adequate probe for microarray due to melanin coprecipitation. Mapping array data were successfully obtained in the remaining 43 cases (73%) of the total cases. Mapping arrays not only provided data in all 38 cases where FISH data were obtained, but also provided data in five patients in whom FISH data were not obtained.. Comparison of findings of chromosome 3 fluorescence in-situ ...
Looking for online definition of DNA ploidy analysis in the Medical Dictionary? DNA ploidy analysis explanation free. What is DNA ploidy analysis? Meaning of DNA ploidy analysis medical term. What does DNA ploidy analysis mean?
OBJECTIVE: To assess the relationship between maternal age, chromosome abnormality, implantation, and pregnancy loss. DESIGN: Multicenter retrospective study. SETTING: IVF centers in the United States. PATIENT(S): IVF patients undergoing chromosome screening. INTERVENTION(S): Embryo biopsy on day 3 or day 5/6 with preimplantation genetic diagnosis (PGD) by array comparative genomic hybridization. MAIN OUTCOME MEASURE(S): Aneuploidy, implantation, pregnancy, and loss rates. RESULT(S): Aneuploidy rates increased with maternal age from 53% to 93% for day 3 biopsies and from 32% to 85% for blastocyst biopsies. Implantation rates for euploid embryos for ages |35-42 years did not decrease after PGD: ranges 44%-32% for day 3 and 51%-40% for blastocyst. Ongoing pregnancy rates per transfer did not decrease for maternal ages |42 years after PGD with day 3 biopsy (48.5%-38.1%) or blastocyst biopsy (64.4%-54.5%). Patients |42 years old had implantation rates of 23.3% (day 3), 27.7% (day 5/6), and the pregnancy
The report that has inspired this communication addresses basic side of chromosome mosaicism research. However, Molecular Cytogenetics has published a series of original researches, which have paid attention to practical side of chromosomal mosaicism [31-36]. These have demonstrated that chromosomal mosaicism is an appreciable phenomenon frequently encountered in small supernumerary marker chromosomes (sSMC) research [31-33, 35]. Furthermore, it provided evidences that mosaic structural chromosome rearrangements are likely to occur more frequently, than previously recognized [4, 5, 34, 36]. In the light of studying sSMC, it should be additionally mentioned that chromosomal mosaicism could be cryptic [37, 38] and dynamic [39]. The former is referred to as occurrence of more complex mosaics than revealed after karyotyping [37]. The latter is the occurrence of new genetic imbalances from an already abnormal cell or mosaicism resulting from behavioral peculiarities of a rearranged chromosome [39]. ...
Abstract The aim of this pilot study was to assess if array comparative genomic hybridization (aCGH), non-invasive preimplantation genetic screening (PGS) on blastocyst culture media is feasible. Therefore, aCGH analysis was carried out on 22 spent blastocyst culture media samples after polar body PGS because of advanced maternal age. All oocytes were fertilized by intracytoplasmic sperm injection and all embryos underwent assisted hatching. Concordance of polar body analysis and culture media genetic results was assessed. Thirteen out of 18 samples (72.2%) revealed general concordance of ploidy status (euploid or aneuploid). At least one chromosomal aberration was found concordant in 10 out of 15 embryos found to be aneuploid by both polar body and culture media analysis. Overall, 17 out of 35 (48.6%) single chromosomal aneuploidies were concordant between the culture media and polar body analysis. By analysing negative controls (oocytes with fertilization failure), notable maternal contamination was
To determine whether or not flow-cytometric evidence of aneuploidy and increased G2/tetraploid fractions predispose to neoplastic progression in Barretts esophagus, 62 patients with Barretts esophagus were evaluated prospectively for a mean interval of 34 months. Nine of 13 patients who showed aneuploid or increased G2/tetraploid populations in their initial flow-cytometric analysis developed high-grade dysplasia or adenocarcinoma during follow-up; none of the 49 patients without these abnormalities progressed to high-grade dysplasia or cancer (P less than 0.0001). Neoplastic progression was characterized by progressive flow-cytometric and histological abnormalities. Patients who progressed to high-grade dysplasia and carcinoma frequently developed multiple aneuploid populations of cells that were detectable flow-cytometrically. Similarly, patients appeared to progress through a phenotypic sequence that could be recognized histologically by the successive appearance of Barretts metaplasia ...
Each mitotic chromosome is constituted by two sister chromatids whose correct segregation to the daughter cells is ensured by amphitelic attachment, in which the two sister kinetochores (KTs) are attached to microtubules (MTs) from opposite mitotic spindle poles. KT mis-attachments can occur in early mitosis and cause chromosome mis-segregation and aneuploidy if not corrected. These mis-attachments include monotelic (one attached and one unattached sister KT), syntelic (both sister KTs attached to the same spindle pole), and merotelic (a single KT attached to MTs from opposite spindle poles) attachments. A biochemical pathway named the Spindle Assembly Checkpoint (SAC) is responsible for delaying anaphase onset to allow correction of KT mis-attachments. SAC activation is believed to occur due to KT localization of certain SAC proteins and/or lack of tension, but only monotelic attachment has been proven to activate the SAC. To determine if and how other KT mis-attachments may activate the SAC, ...
STUDY QUESTION: Is the spindle assembly checkpoint (SAC) active during human preimplantation development?. SUMMARY ANSWER: Mitotic spindle disruption during mitosis activates the SAC from at least Day 3 of human preimplantation development, but this does not lead to apoptosis until Day 5.. WHAT IS KNOWN ALREADY: Human preimplantation embryos frequently acquire chromosomal abnormalities, but the mechanisms behind this are poorly understood. It has been speculated that a dysfunctional SAC could be responsible. Although research has shown that the SAC components are present during early human development, functional studies are lacking.. STUDY DESIGN, SIZE, DURATION: In vitro study using human preimplantation embryos in a university research laboratory. We studied a total of 38 Day-3, 38 Day-4, 29 Day-5 and 21 Day-6 human preimplantation embryos, donated for research, during 16 h of incubation.. PARTICIPANT/MATERIALS, SETTING, METHODS: We cultured human preimplantation embryos overnight in a ...

Are XYY males more prone to aggressive behavior than XY malesAre XYY males more prone to aggressive behavior than XY males

This type of chromosomal anomaly is known as aneuploidy of the sex chromosomes. Such aneuploidies, which can involve either the ... ANEUPLOIDY: Condition where a copy or copies of a chromosome are lost or gained so the total number is more or less than the ... Aneuploidy of the sex chromosomes is fairly common. When considered as a group, the most common aberrations of the sex ... Aneuploidies of the sex chromosomes, especially those involving the Y chromosome, generally show less serious clinical symptoms ...
more infohttp://www.scienceclarified.com/dispute/Vol-1/Are-XYY-males-more-prone-to-aggressive-behavior-than-XY-males.html

Klinefelter Syndrome Differential DiagnosesKlinefelter Syndrome Differential Diagnoses

Sex chromosome aneuploidy: the Denver Prospective Study. Birth Defects Orig Artic Ser. 1990. 26(4):59-115. [Medline]. ... Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006 Oct 24. 1:42. [Medline]. [Full Text]. ... Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006 Oct 24. 1:42. [Medline]. [Full Text]. ... Prognosis of prenatally diagnosed children with sex chromosome aneuploidy. Am J Med Genet. 1992 Oct 1. 44(3):365-8. [Medline]. ...
more infohttps://emedicine.medscape.com/article/945649-differential

Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndromeNext Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome

a study of 305 patients with sex chromosome aneuploidy. Am J Med Genet. 2010;152:1206-12 ... Men affected by KS carry one or more extra X-chromosome and the classic aneuploidy, observed in about the 80% of the cases, ...
more infohttp://www.medsci.org/v15p0031.htm

Klinefelters Syndrome / XXY Males: The Effects of Having an Extra Chromosome in MalesKlinefelter's Syndrome / XXY Males: The Effects of Having an Extra Chromosome in Males

Klinefelters syndrome is a genetic disorder caused by a process known as "chromosome aneuploidy." Every cell in the human body ...
more infohttp://www.brighthub.com/science/genetics/articles/10743.aspx

Aneuploidy | SpringerLinkAneuploidy | SpringerLink

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 ...
more infohttps://link.springer.com/book/10.1007/978-1-4613-2127-9

Transcriptional consequences of aneuploidy | PNASTranscriptional consequences of aneuploidy | PNAS

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 ...
more infohttp://www.pnas.org/content/109/31/12644.long

Reducing Sperm Aneuploidy Before ICSI - InfertilityReducing Sperm Aneuploidy Before ICSI - Infertility

... 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; ...
more infohttp://www.bellaonline.com/articles/art182973.asp

Aneuploidy Screen by FISH, Neonatal / PostnatalAneuploidy Screen by FISH, Neonatal / Postnatal

Please Note: this test does not screen for aneuploidy of chromosome 21 (e.g. Trisomy 21 / Down syndrome). If the patient is ...
more infohttps://www.nationwidechildrens.org/specialties/laboratory-services/lab-test-directory/aneuploidy-by-fish-neonatal

aneuploidy Archives | The Body Ecologyaneuploidy Archives | The Body Ecology

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 ...
more infohttps://bodyecology.com/articles/tag/aneuploidy/

Aneuploidy: Cancers Fatal Flaw? | Cancer ResearchAneuploidy: Cancer's Fatal Flaw? | Cancer Research

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 ...
more infohttp://cancerres.aacrjournals.org/content/69/13/5289

Aneuploidy and Preimplantation Genetic ScreeningAneuploidy and Preimplantation Genetic Screening

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 ...
more infohttps://www.fertilityauthority.com/fertility-treatment/miscarriage-aneuploidy-and-preimplantation-genetic-screening

Fetal Aneuploidy Screening | PerkinElmerFetal Aneuploidy Screening | PerkinElmer

We offer screening systems for aneuploidies that combine markers and assays for high detection rates with low numbers of false ... PerkinElmer aneuploidy and pre-eclampsia screening products are not available in the USA. Products may not be available in all ... We offer screening systems for aneuploidies that combine markers and assays for high detection rates with low numbers of false ... Reliable and easy to use AutoDELFIA instrument offers high quality results both for aneuploidy and pre-eclampsia risk ...
more infohttps://www.perkinelmer.com/category/aneuploidies

Aneuploidy, polyploidy and ploidy reversal in the liver.  - PubMed - NCBIAneuploidy, polyploidy and ploidy reversal in the liver. - PubMed - NCBI

Aneuploidy, polyploidy and ploidy reversal in the liver.. Duncan AW1.. Author information. 1. Department of Pathology, McGowan ... Aneuploidy in the liver is pervasive, affecting 60% of hepatocytes in mice and 30-90% of hepatocytes in humans. Polyploidy and ... New evidence suggests that random hepatic aneuploidy can promote adaptation to liver injury. For instance, in response to ... aneuploidy in the liver are closely linked, and the ploidy conveyor model describes this relationship. Diploid hepatocytes ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/23333793?dopt=Abstract

Improving breast cancer sensitivity to paclitaxel by increasing aneuploidy | PNASImproving breast cancer sensitivity to paclitaxel by increasing aneuploidy | PNAS

... 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 ...
more infohttps://www.pnas.org/content/early/2019/10/30/1910824116

Aneuploidy - The Anti-Aging Medical ClinicAneuploidy - The Anti-Aging Medical Clinic

This is termed aneuploidy. For example, three number 21 chromosomes or trisomy 21 (characteristic of Down syndrome) is a form ... 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 ...
more infohttps://www.medical-library.net/aneuploidy/

aneuploidyaneuploidy

Genomic entropy drives aneuploidy Ed Park, MD. 07/14/2017. age-related-diseases, aging, cancer, dr ed park, stem cell theory of ... AginganeuploidyATMbrca1brca2breast cancercancercell cycledna repairEd Parkkomenli-fraumeniMRNnon-dysjunctionp53progeriarecharge ... Aginganeuploidybill andrewscancerchimerismchromothirpsisDr. Ed Parkgenetic driftmosicstem cellstelomere timebombstelomeres ... aneuploidyautismdr parkfecundityfertilitypaternal agepronatlaismspermtelomerasetelomere ...
more infohttp://www.rechargebiomedical.com/tag/aneuploidy/

Mosaic double aneuploidy: Down syndrome and XYY.Mosaic double aneuploidy: Down syndrome and XYY.

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. ...
more infohttp://www.biomedsearch.com/nih/Mosaic-double-aneuploidy-Down-syndrome/24339550.html

Aneuploidy Analysis | Thermo Fisher Scientific - MXAneuploidy Analysis | Thermo Fisher Scientific - MX

Low-pass whole-genome aneuploidy workflow features:. *Uses as little as a single cells DNA as input, followed by whole-genome ... Cells that do not contain an exact diploid set are called aneuploid (Figure 1). Common types of aneuploidy are monosomy (the ... ANEUPLOIDY ANALYSIS. Detection by low-pass whole-genome sequencing with Ion Reporter Software ... Detects gains or losses of whole chromosomes (aneuploidy) and subchromosomal regions. *Delivers DNA ploidy results using low- ...
more infohttps://www.thermofisher.com/mx/en/home/life-science/sequencing/next-generation-sequencing/ion-torrent-next-generation-sequencing-workflow/ion-torrent-next-generation-sequencing-data-analysis-workflow/ion-reporter-software/aneuploidy-analysis.html

Comparison of Aneuploidy Risk Evaluations - Full Text View - ClinicalTrials.govComparison of Aneuploidy Risk Evaluations - Full Text View - ClinicalTrials.gov

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 ...
more infohttps://clinicaltrials.gov/ct2/show/NCT01663350?recr=Open&cond=%22Ovarian+Failure%2C+Premature%22&rank=18

Discordance among blastomeres renders preimplantation genetic diagnosis for aneuploidy ineffective | SpringerLinkDiscordance among blastomeres renders preimplantation genetic diagnosis for aneuploidy ineffective | SpringerLink

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 ...
more infohttps://link.springer.com/article/10.1007%2Fs10815-006-9073-x

Non-Invasive Screening for Fetal Aneuploidy - Full Text View - ClinicalTrials.govNon-Invasive Screening for Fetal Aneuploidy - Full Text View - ClinicalTrials.gov

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 ...
more infohttps://clinicaltrials.gov/ct2/show/NCT00847990

Hsp90 stress potentiates rapid cellular adaptation through induction of aneuploidy.  - PubMed - NCBIHsp90 stress potentiates rapid cellular adaptation through induction of aneuploidy. - PubMed - NCBI

Aneuploidy--the state of having uneven numbers of chromosomes--is a hallmark of cancer and a feature identified in yeast from ... Hsp90 stress potentiates rapid cellular adaptation through induction of aneuploidy.. Chen G1, Bradford WD, Seidel CW, Li R. ... Recent studies have shown that aneuploidy is a form of large-effect mutation that is able to confer adaptive phenotypes under ... These findings demonstrate that aneuploidy is a form of stress-inducible mutation in eukaryotes, capable of fuelling rapid ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/22286062?dopt=Abstract

Partial aneuploidy | definition of partial aneuploidy by Medical dictionaryPartial aneuploidy | definition of partial aneuploidy by Medical dictionary

What is partial aneuploidy? Meaning of partial aneuploidy medical term. What does partial aneuploidy mean? ... Looking for online definition of partial aneuploidy in the Medical Dictionary? partial aneuploidy explanation free. ... partial aneuploidy. par·tial an·eu·ploi·d·y. a type of mosaicism in which some cells have a normal number of chromosomes and ... In 206 SA cases, complete or partial aneuploidy was detected involving trisomy (85.. Comparative Genomic Hybridization A New ...
more infohttps://medical-dictionary.thefreedictionary.com/partial+aneuploidy

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. | Sigma-AldrichMutations in CEP57 cause mosaic variegated aneuploidy syndrome. | Sigma-Aldrich

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 ...
more infohttps://www.sigmaaldrich.com/catalog/papers/21552266
  • 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)
  • 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)
  • 15- 17 In this brief review, the possible mechanisms responsible for aneuploidy and the role of aneuploidy in malignancy are discussed. (bmj.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)
  • Gianaroli L, Magli MC, Ferraretti AP, Tabanelli C, Farfalli V, Cavallini G, Me R. The beneficial effects of preimplantation genetic diagnosis for aneuploidy support extensive clinical application. (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)
  • 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)
  • In humans, disease conditions have been described in which aneuploidy affects the entire individual or a subset of cells. (aacrjournals.org)
  • Aneuploidy in the liver is pervasive, affecting 60% of hepatocytes in mice and 30-90% of hepatocytes in humans. (nih.gov)
  • The most frequent aneuploidy in humans is trisomy 16, although fetuses affected with the full version of this chromosome abnormality do not survive to term (it is possible for surviving individuals to have the mosaic form, where trisomy 16 exists in some cells but not all). (wikipedia.org)
  • We provided a proof-of-principle test with mechanistic explanation in budding yeast and demonstrated the potential efficacy of this strategy toward aneuploidy-based azole resistance in the human pathogen Candida albicans. (ku.edu)
  • 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)
  • 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)
  • Short-term exposure to Hsp90 stress, which produced an aneuploidy population with heterogeneous karyotypes, potentiated fast adaptation to unrelated cyto-toxic compounds through different aneuploid chromosome stoichiometries. (ku.edu)
  • We designed an evolutionary trap to harness the adaptability of heterogeneous aneuploidy populations with high adaptability. (ku.edu)
  • 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)
  • Aneuploidy, or an aberrant karyotype, results in developmental disabilities and has been implicated in tumorigenesis. (pnas.org)
  • New evidence suggests that random hepatic aneuploidy can promote adaptation to liver injury. (nih.gov)
  • Aneuploidy is frequently noted in malignant tumours. (bmj.com)
  • The most prominent disease in which aneuploidy is observed at the cellular level is cancer, a disease of hyper-proliferation. (aacrjournals.org)
  • 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)
  • 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)
  • Aneuploidy is defined as the alteration of chromosome number that is not a multiple of the haploid complement. (aacrjournals.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)
  • 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 confirmed chromosomal abnormality, for couples who have had multiple early miscarriages and for couples who have had multiple unsuccessful IVF cycles. (fertilityauthority.com)
  • Cytogenetic analysis is recommended even if the typical features of a recognized aneuploidy are present so that any associated abnormality may be detected. (biomedsearch.com)
  • These findings demonstrate that aneuploidy is a form of stress-inducible mutation in eukaryotes, capable of fuelling rapid phenotypic evolution and drug resistance, and reveal a new role for Hsp90 in regulating the emergence of adaptive traits under stress. (nih.gov)
  • To evaluate the accuracy in the diagnosis of aneuploidies of a quantitative fluorescent polymerase chain reaction (QF-PCR) assay on trophoblastic cells recovered from transcervical cells samples (TCCs) collected by intrauterine lavage (IUL). (hindawi.com)
  • Whereas polyploidy is reasonably well tolerated on both the cellular and organismal level, aneuploidy is not, with the condition frequently being associated with death and severe developmental abnormalities in all organisms analyzed to date ( 1 ). (aacrjournals.org)
  • In 206 SA cases, complete or partial aneuploidy was detected involving trisomy (85. (thefreedictionary.com)
  • the comparison of peak profiles obtained from IUL, placental, and maternal samples confirmed the diagnosis of aneuploidy in all three cases. (hindawi.com)