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)

Genomic instability (GIN) is a hallmark of cancer cells that facilitates the acquisition of mutations conferring aggressive or drug-resistant phenotypes during cancer evolution. Chromosomal instability (CIN) is a form of GIN that involves frequent cytogenetic changes leading to changes in chromosome copy number (aneuploidy). While both CIN and aneuploidy are common characteristics of cancer cells, their roles in tumor initiation and progression are unclear. On the one hand, CIN and aneuploidy are known to provide genetic variation to allow cells to adapt in changing environments such as nutrient fluctuations and hypoxia. Patients with constitutive aneuploidies are more susceptible to certain types of cancers, suggesting that changes in chromosome copy number could positively contribute to cancer evolution. On the other hand, chromosomal imbalances have been observed to have detrimental effects on cellular fitness and might trigger cell cycle arrest or apoptosis. Furthermore, mouse models for CIN have
Background: Aneuploidy, a karyotype deviating from multiples of a haploid chromosome set, affects the physiology of eukaryotes. In humans, aneuploidy is linked to pathological defects such as developmental abnormalities, mental retardation or cancer, but the underlying mechanisms remain elusive. There are many different types and origins of aneuploidy, but whether there is a uniform cellular response to aneuploidy in human cells has not been addressed so far. Results: Here we evaluate the transcription profiles of eleven trisomic and tetrasomic cell lines and two cell lines with complex aneuploid karyotypes. We identify a characteristic aneuploidy response pattern defined by upregulation of genes linked to endoplasmic reticulum, Golgi apparatus and lysosomes, and downregulation of DNA replication, transcription as well as ribosomes. Strikingly, complex aneuploidy elicits the same transcriptional changes as trisomy. To uncover the triggers of the response, we compared the profiles with ...
Aneuploidy can be either due to loss of one or more chromosomes or due to addition of one or more chromosomes. It leads to variation in number of chromosome
Aneuploidy is invariably associated with poor proliferation of primary cells, but the specific contributions of abnormal karyotypes to cancer, a disease characterized by aneuploidy and dysregulated proliferation, remain unclear. In this study, I demonstrate that the transcriptional alterations caused by aneuploidy in primary cells are also present in chromosomally unstable cancer cell lines, but the same alterations are not common to all aneuploid cancers. Chromosomally unstable cancer lines and aneuploid primary cells also share an increase in glycolytic and TCA cycle flux. The biological response to aneuploidy is associated with cellular stress and slow proliferation, and a 70-gene signature derived from primary aneuploid cells was defined as a strong predictor of increased survival in several cancers. Inversely, a transcriptional signature derived from clonal aneuploidy in tumors correlated with high mitotic activity and poor prognosis. Together, these findings suggested that there are two ...
Recombination between loxP sites with the same orientation in trans can generate ES cells with a deficiency accompanied by a duplication, regardless of the relative orientation of the two cassettes along a chromosome. The recombinant chromosomes will differ slightly, depending on the relative order of the Hprt cassettes. In one case, the chromosome with the deficiency will be tagged with the regenerated Hprt minigene, while the chromosome with the duplication will carry the neomycin- and puromycin-resistance cassettes. If the two cassettes are oppositely oriented, then the chromosome with the deficiency will carry the neomycin- and puromycin-resistance genes, and the chromosome with the duplication will carry the Hprt minigene.. The recombination frequency between loxP sites on the same chromosome appears to decrease as the distance between the loxP sites increases (Table 2). Similar observations have been reported in experiments in D. melanogaster using the FLP-FRT system (Golic and Golic ...
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 ...
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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,
The cell cycle is a complex sequence of events through which a cell duplicates its contents and divides, and involves many regulatory proteins for proper cellular reproduction, including cyclin proteins and cyclin-dependent kinases, oncogenes and tumor-suppressor genes, and mitotic checkpoint protei …
1. Aneuploidy as the cause of cancer Cancer cells differ from normal in specific genotypes and phenotypes. The most common and massive cancer-specific genotype is aneuploidy, an abnormal number of chromosomes. The cancer-specific phenotypes include 1) dedifferentiation, 2) ability to metastasize, 3) constitutive genetic instability, 4) neoantigens, 5) metabolism, and 6) morphology. These cancer-specific properties are currently all interpreted as consequences of gene mutations. However, mutated genes do not typically generate new phenotypes, nor do mutated genes from cancer cells generate aneuploidy or transform diploid human or animal cells into cancer cells. In view of this we re-investigated the 100 year old hypothesis, that aneuploidy causes cancer. Confirming the aneuploidy hypothesis we have found, that each of 44 chemically transformed Chinese hamster cell colonies was aneuploid and all those tested were tumorigenic (Li et al., 1997). We propose that aneuploidy alters the cell - like ...
It has been known for more than half a century that the risk of conceiving a child with trisomy increases with advanced maternal age However the origin of the high susceptibility to nondisjunction of whole chromosomes and precocious separation of sister chromatids leading to aneuploidy in aged oocytes and embryos derived from them cannot be traced back to a single disturbance and mechanism Instead analysis of recombination patterns of meiotic chromosomes of spread oocytes from embryonal ovary and of origins and exchange patterns of extra chromosomes in trisomies as well as morphological and molecular studies of oocytes and somatic cells from young and aged females show chromosome specific risk patterns and cellular aberrations related to the chronological age of the female In addition analysis of the function of meiotic and cell cycle regulating genes in oogenesis and the study of the spindle and chromosomal status of maturing oocytes suggest that several events contribute synergistically to ...
Many cancers have extremely high rates of chromosomal instability (CIN). Some cancers have chromosome segregation errors in every cell division, which would be detrimental to the growth of normal cells. Little is known about how cancers are able to thrive with high levels of CIN. We aim to determine how cells evolve to cope with CIN by creating a model system for persistent chromosomal instability in budding yeast. What types of mutations allow cells to adapt to a constantly shifting genomic content? What are the direct effects of CIN and aneuploidy on the health and viability of cells? close ...
The advances in reproductive medicine have been many. As the New Year begins, here are FertilityAuthoritys four trends you should watch. Genetic screening of embryos for aneuploidy. A normal embryo has 23 pairs of chromosomes, including an XX or an XY to determine sex. Aneuploidy is the term used to describe an abnormal number of chromosomes, and majority of embryos with aneuploidy will not implant in the uterus or will result in a miscarriage. Many fertility clinics are now offering preimplantation genetic screening (PGS) for aneuploidy. One method that is gaining much attention is called comprehensive chromosomal analysis (CCS) tests a Day 5 or 6 embryo that is subsequently frozen and transferred during a frozen cycle. Women who have experienced recurrent miscarriages or recurrent IVF failure, or those who are of advanced maternal age, may want to ask their fertility doctors about PGS or CCS for aneuploidy screening.
Most human tumors have abnormal numbers of chromosomes, a condition known as aneuploidy. The mitotic checkpoint is an important mechanism that prevents aneuploidy by restraining the activity of the anaphase-promoting complex (APC). The deubiquitinase USP44 was identified as a key regulator of APC activation; however, the physiological importance of USP44 and its impact on cancer biology are unknown. To clarify the role of USP44 in mitosis, we engineered a mouse lacking Usp44. We found that USP44 regulated the mitotic checkpoint and prevented chromosome lagging. Mice lacking Usp44 were prone to the development of spontaneous tumors, particularly in the lungs. Additionally, USP44 was frequently downregulated in human lung cancer, and low expression correlated with a poor prognosis. USP44 inhibited chromosome segregation errors independent of its role in the mitotic checkpoint by regulating centrosome separation, positioning, and mitotic spindle geometry. These functions required direct binding to ...
STUDY QUESTION: Can next-generation sequencing (NGS) techniques be used reliably for comprehensive aneuploidy screening of human embryos from patients undergoing IVF treatments, with the purpose of identifying and selecting chromosomally normal embryos for transfer?. SUMMARY ANSWER: Extensive application of NGS in clinical preimplantation genetic screening (PGS) cycles demonstrates that this methodology is reliable, allowing identification and transfer of euploid embryos resulting in ongoing pregnancies.. WHAT IS KNOWN ALREADY: The effectiveness of PGS is dependent upon the biology of the early embryo and the limitations of the technology. Fluorescence in situ hybridization, used to test for a few chromosomes, has largely been superseded by microarray techniques that test all 24 chromosomes. Array comparative genomic hybridization (array-CGH) has been demonstrated to be an accurate PGS method and has become the de facto gold standard, but new techniques, such as NGS, continue to emerge.. STUDY ...
The study, which has also involved the collaboration of ICREA researcher Angel R. Nebreda, in the Oncologys programme at the same institute, explains how the molecular and cellular mechanisms triggered by aneuploid cells can give rise to tumours.. The research on aneuploidy and tumorigenesis has been performed using the wing primordia of the fruit fly Drosophila melanogaster as a model. This tissue is an epithelium organised into a single layer and that grows by 20 to 30,000 cells in a few days. Given these features, this tissue is an ideal system in which to generate genomic instability and to dissect the cell and molecular mechanisms that elicit aneuploid cells in a proliferating tissue.. Aneuploid cells: first step, suicide. The team of researchers observed that aneuploid cells first activate apoptosis (or programmed cell suicide). At the same time, in an attempt to counteract the imminent loss of cells, they send signals to neighbouring ones instructing them to divide and proliferate ...
InteGens Multiplex Interphase Chromosome Profiling products for Pre/Post-natal detect all common aneuploidies - 13, 18, 21, X and Y along with the option to detect all chromosomes and all common microdeletions. Whereas most prenatal diagnostic tests require an invasive procedure (CVS or amniocentesis), our FISH probes can be used on intact isolated/enriched fetal cells found in the mothers blood. This is made possible by our partner labs technology, which can recover 44 fetal cells from as little as 2ml of blood. This allows for a non-invasive blood test without putting the pregnancy at risk for miscarriage.. Most clinical labs that perform noninvasive prenatal testing (NIPT) test for all common aneuploidies (13, 18, 21, X and Y) and some claim they can test for the ten common microdeletions. However, if they find a positive result, labs must then provide further confirmation by invasive procedure. Combining our partners fetal cell isolation technology with InteGens innovative probes, labs ...
UniSA researchers at the Centre for Cancer Biology (CCB) have discovered a new aspect of cancer biology that may help to battle the spread and growth of tumours.. The research focuses on aneuploid cells, which are often associated with abnormal chromosome content and cell division - and how an enzyme known as caspase-2, initially discovered by the lead researcher 25 years ago, can act to prevent their growth.. Research leaders, Professor Sharad Kumar and Dr Loretta Dorstyn with PhD student Swati Dawar, have discovered that caspase-2, which is found in all mammals, has the capacity to suppress cancer growth by working to destroy aneuploid cells.. "Aneuploidy is a term that describes the abnormal chromosome content of a cell and occurs when there are failings during the normal division of a cell," Prof Kumar says.. "Aneuploidy is a feature of the majority of human tumours and is known to lead to chromosomal instability that can promote cancer onset and progression and cause drug ...
Defective segregation of chromosomes during cell division causes aneuploidy and is a characteristic feature of cancer cells. Cells therefore utilize multiple mechanisms to ensure faithful segregation and prevent aneuploidy, including phospho-regulation of proteins responsible for separating replicated chromosomes during mitosis. These mechanisms depend on the essential, conserved protein kinase Mps1. The goal of my work is to identify the downstream effectors of Mps1 in chromosome segregation and to illuminate the mechanisms of Mps1 function. This work will combine novel biochemical and cell biological approaches with emerging structural analysis methods to improve fundamental understanding of phospho-regulation of chromosome segregation.. ...
We have demonstrated that DANSR enables efficient and selective evaluation of cfDNA from maternal blood for fetal aneuploidy. We analyzed 298 plasma samples from pregnant women, including 39 T21 and seven T18 cases. Previous studies with MPSS have used a Z statistic cut-off of three standard deviations to classify cases as aneuploid or euploid.[7, 9] Using a similar statistical analysis, we correctly distinguished all aneuploid cases from average-risk cases using as few as 420 000 reads per sample.. Digital analysis of selected regions has several advantages compared with MPSS as an assay for aneuploidy. First, the fraction of raw sequencing reads that map to expected loci exceeds 96% with DANSR; by contrast, studies using MPSS report mapping rates of 20% to 50%.[7, 8] Second, DANSR produces sequence data only from chromosomes of clinical interest; by contrast, MPSS produces data from all chromosomes, irrespective of their relevance to analysis of aneuploidy. Taken together, the DANSR advantages ...
... On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
The DNA microarray is a molecular genetic technique uses nucleic acid hybridization principle for gene expression studies, identification of genotype and mutations associated with the disease." After the discovery of…. ...
22q Moms...you are in need of some major relaxation and time for YOU. We are so excited to offer the first The 22q Family Foundation Moms Retreat: Finding YOU in the Midst of 22q. We will gather at the Spirit in the Desert Retreat Center in... ...
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1 ...
In 1974, Segal and McCoy reported that primary foreskin fibroblasts of trisomy 21 patients proliferate more slowly than euploid control cells ( 6). Similar results were obtained from studies of primary mouse cells ( 7) or human cell lines ( 8) with decreased chromosome segregation fidelity. We set out to characterize the effects of a single extra chromosome on cell growth and proliferation in a systematic manner. This approach not only enabled us to determine whether every chromosome when present in an extra copy interferes with proliferation, but also allowed us to determine whether a general response to aneuploidy exists.. We established MEFs trisomic for either chromosome 1, 13, 16, or 19 using mice with balanced Robertsonian translocations. Analysis of the cell lines established from these aneuploid embryos revealed that cell proliferation was hampered in all trisomic MEFs compared with euploid controls. Furthermore, the characterization of the trisomic MEFs revealed a number of shared ...
... evolutionarily, provides been suggested as a factor in maintenance of chromosomal tumour and balance reductions. can either arise from different structural lesions, such simply because mutations, chromosomal translocations or deletions, or can result from statistical changes where cells lose or gain copies of entire chromosomes (aneuploidy).3 NVP-BEP800 As the most common chromosome abnormality in individuals, aneuploidy is the most common chromosome abnormality in individuals, is the trigger of many congenital delivery flaws and is found in the majority of good tumours.4 It is also regarded a key underlying factor to tumor onset and treatment. Aneuploidy occurs from extravagant mitotic occasions, including problems in centrosome quantity, kinetochore-microtubule accessories, spindle-assembly gate (SAC), chromosome telomeres or cohesion. 4 Aberrant mitotic police arrest systems normally result in cell loss of life by apoptosis, ...
Cytogenetic studies were performed in 95 adults with acute leukemia, 39 (41%) of whom had abnormal karyotypes in their leukemic cells. The karyotypes were grouped according to the Denver-Chicago classification, and abnormalities were correlated with clinical variables. The frequency and quality of abnormality was not influenced by age, morphologic type of leukemia, or prior treatment. The frequency of abnormal karyotypes was increased in patients with increasing leukocytosis. Hypodiploidy adversely affected response to treatment and survival. D or E group chromosome deletions were associated with a decreased response to treatment and survival, whereas patients with extra D or E chromosomes had an improved prognosis. The overall distribution of chromosomal abnormalities in the leukemic cells deviated significantly from the expected for random distribution. D+, E+, and G- abnormalities were significantly more frequent than expected. Patients with marrow leukemic cell aneuploidy showed a loss of ...
Most solid tumors are aneuploid, having a chromosome number that is not a multiple of the haploid number, and many frequently mis-segregate whole chromosomes ...
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If you have a question about this talk, please contact Kathy Oswald.. Hosts: Phil Zegerman & Meri Huch. Abstract not available. This talk is part of the Gurdon Institute Seminar Series series.. ...
Genetic analyses reveal that purely quantitative changes in the relative copy number of chromosomes can be sufficient to disrupt the epigenetic mechanisms that define the cells differentiated state.
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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 ...
A recent study demonstrates a high variability among different centers in the euploidy rate of embryos generated from donated eggs (Munnè et al., 2017). Using SNP array analysis, most embryonic meiotic aneuploidies have been found to be from maternal origin. From these observations, it may be speculated that the ovarian stimulation may affect the embryo euploidy rate independently from the oocyte source. Despite this, PGS in ED cycles is often considered unnecessary. Very few studies examined the use of PGS in ED cycles thus far and the results were inconclusive ...
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.
In the pre-implantation embryo, aneuploidy resulting from chromosome segregation error is considered responsible for pregnancy loss. However, only a few studies have examined the relationship between chromosome segregation errors during early cleavage and development. Here, we evaluated this relationship by live-cell imaging using the histone H2B-mCherry probe and subsequent single blastocyst transfer using mouse embryos obtained by in vitro fertilization. We showed that some embryos exhibiting early chromosomal segregation error and formation of micronuclei retained their developmental potential; however, the error affected the blastocyst/arrest ratio. Further, single-cell sequencing after live-cell imaging revealed that all embryos exhibiting micronuclei formation during 1st mitosis showed aneuploidy at the 2-cell stage. These results suggest that early chromosome segregation error causing micronuclei formation affects ploidy and development to blastocyst but does not necessarily cause developmental
The cognitive deficits present in individuals with sex chromosome aneuploidies suggest that hemispheric differentiation of function is determined by an X-Y homologous gene [Crow (1993); Lancet 342:594-598]. In particular, females with Turners syndrome (TS) who have only one X-chromosome exhibit deficits of spatial ability whereas males with Klinefelters syndrome (KS) who possess a supernumerary X-chromosome are delayed in acquiring words. Since spatial and verbal abilities are generally associated with right and left hemispheric function, such deficits may relate to anomalies of cerebral asymmetry. We therefore applied a novel image analysis technique to investigate the relationship between sex chromosome dosage and structural brain asymmetry. Specifically, we tested Crows prediction that the magnitude of the brain torque (i.e., a combination of rightward frontal and leftward occipital asymmetry) would, as a function of sex chromosome dosage, be respectively decreased in TS women and increased in KS
RESULTS. Fluorescence in-situ hybridisation detected 558 (9.5%) patients with chromosomal abnormalities. Abnormal ultrasounds (70%) and maternal serum screens (21%) were the most indicative of chromosomal abnormalities. When comparing fluorescence in-situ hybridisation data with karyotype results for the five chromosomes of interest, the sensitivity and specificity were 99.3% and 99.9%, respectively. When comparing fluorescence in-situ hybridisation data with karyotype results for all chromosomes, the sensitivity decreased to 86.8%, whereas the specificity remained at 99.9%. Of 643 cases with karyotype abnormalities, 85 were fluorescence in-situ hybridisation-negative (false negative rate, 13.2%), which included structural rearrangements, chromosome mosaicism, and other trisomies. Despite abnormal ultrasound indications, fluorescence in-situ hybridisation missed 32 cases which included structural rearrangements, mosaicisms, and other trisomies ...
TY - JOUR. T1 - Rapid detection of aneuploidy following the generation of mutants in Candida albicans. AU - Lenardon, Megan D. AU - Nantel, André. PY - 2012. Y1 - 2012. N2 - Techniques used to generate mutants in Candida albicans commonly result in additional and undesired genetic rearrangements. Detection of aneuploidy is, therefore, an important step forward in the quality control of mutant phenotypes. In this chapter, we describe how to extract genomic DNA and perform a quantitative multiplex PCR to compare the karyotype of any mutant strain to that of its parent and allow the detection of any unwanted aneuploidy.. AB - Techniques used to generate mutants in Candida albicans commonly result in additional and undesired genetic rearrangements. Detection of aneuploidy is, therefore, an important step forward in the quality control of mutant phenotypes. In this chapter, we describe how to extract genomic DNA and perform a quantitative multiplex PCR to compare the karyotype of any mutant strain ...
Chromosomal aneuploidy is a common cause of birth defects. Unfortunately, the diagnostic sensitivity and specificity of current screening programs for fetal chromosomal aneuploidy have been unsatisfactory (1). The discovery of cell-free fetal DNA in maternal plasma (2) has led to the introduction of a new method of noninvasive fetal aneuploidy detection that uses next-generation sequencing (3-5). This method has been tested widely in clinical applications in recent years (6-8).. The current next-generation sequencing platforms have several weaknesses, however, and these limitations need to be addressed before these platforms can be used in routine clinical applications. These weaknesses include poor sample scalability, high cost, and a long sequencing time (2 to 3 days). A new benchtop sequencing instrument developed by Ion Torrent (owned by Life Technologies), based on semiconductor sequencing technology, can solve many of these problems (9, 10). The Ion Torrent Personal Genome Machine (PGM),6 ...
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 ...
Non-Invasive Prenatal Testing to detect chromosome aneuploidies in 57,204 pregnancies[25] "Non-invasive prenatal testing (NIPT) has been widely used to detect common fetal chromosome aneuploidies, such as trisomy 13, 18, and 21 (T13, T18, and T21), and has expanded to sex chromosome aneuploidies (SCAs) during recent years, but few studies have reported NIPT detection of rare fetal chromosome aneuploidies (RCAs). In this study, we evaluated the clinical practical performance of NIPT to analyze all 24 chromosome aneuploidies among 57,204 pregnancies in the Suzhou area of China. METHODS: This was a retrospective analysis of prospectively collected NIPT data from two next-generation sequencing (NGS) platforms (Illumina and Proton) obtained from The Affiliated Suzhou Hospital of Nanjing Medical University. NIPT results were validated by karyotyping or clinical follow-up. RESULTS: NIPT using the Illumina platform identified 586 positive cases; fetal karyotyping and follow-up results validated 178 T21 ...
Non-Invasive Prenatal Testing to detect chromosome aneuploidies in 57,204 pregnancies[25] "Non-invasive prenatal testing (NIPT) has been widely used to detect common fetal chromosome aneuploidies, such as trisomy 13, 18, and 21 (T13, T18, and T21), and has expanded to sex chromosome aneuploidies (SCAs) during recent years, but few studies have reported NIPT detection of rare fetal chromosome aneuploidies (RCAs). In this study, we evaluated the clinical practical performance of NIPT to analyze all 24 chromosome aneuploidies among 57,204 pregnancies in the Suzhou area of China. METHODS: This was a retrospective analysis of prospectively collected NIPT data from two next-generation sequencing (NGS) platforms (Illumina and Proton) obtained from The Affiliated Suzhou Hospital of Nanjing Medical University. NIPT results were validated by karyotyping or clinical follow-up. RESULTS: NIPT using the Illumina platform identified 586 positive cases; fetal karyotyping and follow-up results validated 178 T21 ...
Ulcerative colitis is a chronic inflammatory disease that mainly affects the colon and rectum. Onset of disease is most common between the ages of 15-35 years. There is an observed increased risk of colorectal cancer associated with the disease. The risk is often described to be 2% after 10 years, 8% after 20 years and 18% after 30 years disease.. Since 1977, all known patients with ulcerative colitis in the catchment area of Örnsköldsvik Hospital have been invited to attend a colonoscopic surveillance programme. At endpoint of the studies included in this thesis there were 214 patients that had attended the surveillance programme. The aims of these studies have been to evaluate the efficiency of the surveillance programme, analyse the impact of findings of DNA aneuploidy, and determine the outcome for patients that underwent limited resections instead of complete proctocolectomy. Further, we have studied the long-term outcome for patients who had an early onset of disease and analysed the ...
TY - JOUR. T1 - Reduced Chromosome Cohesion Measured by Interkinetochore Distance is Associated with Aneuploidy Even in Oocytes from Young Mice. AU - Merriman, Julie A.. AU - Lane, Simon I.R.. AU - Holt, Janet E.. AU - Jennings, Phoebe C.. AU - García-Higuera, Irene. AU - Moreno, Sergio. AU - McLaughlin, Eileen A.. AU - Jones, Keith T.. PY - 2013/2/1. Y1 - 2013/2/1. N2 - It is becoming clear that reduced chromosome cohesion is an important factor in the rise of maternal age-related aneuploidy. This reduction in cohesion has been observed both in human and mouse oocytes, and it can be measured directly by an increase with respect to maternal age in interkinetochore (iKT) distance between a sister chromatid pair. We have observed variations in iKT distance even in oocytes from young mice and wondered if such differences may predispose those oocytes displaying the greatest iKT distances to be becoming aneuploid. Therefore, we used two methods, one pharmacological (Aurora kinase inhibitor) and one ...
Many cancers have extremely high rates of chromosomal instability (CIN). Some cancers have chromosome segregation errors in every cell division, which would be detrimental to the growth of normal cells. Little is known about how cancers are able to thrive with high levels of CIN. We aim to determine how cells evolve to cope with CIN by creating a model system for persistent chromosomal instability in budding yeast. What types of mutations allow cells to adapt to a constantly shifting genomic content? What are the direct effects of CIN and aneuploidy on the health and viability of cells?. ...
Sperm aneuploidy[edit]. Exposure of males to certain lifestyle, environmental and/or occupational hazards may increase the risk ... Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001). "Cigarette smoking and aneuploidy in human sperm". Mol. Reprod. ... Templado C, Uroz L, Estop A (2013). "New insights on the origin and relevance of aneuploidy in human spermatozoa". Mol. Hum. ... Governini L, Guerranti C, De Leo V, Boschi L, Luddi A, Gori M, Orvieto R, Piomboni P (2014). "Chromosomal aneuploidies and DNA ...
AneuploidyEdit. Aneuploidy is the condition in which the chromosome number in the cells is not the typical number for the ... Aneuploidy may also occur within a group of closely related species. Classic examples in plants are the genus Crepis, where the ... Numerical abnormalities, also known as aneuploidy, often occur as a result of nondisjunction during meiosis in the formation of ...
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 ...
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.; ...
... mutant has aneuploidy tolerance. SRC1 at yeastgenome.org.. ...
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 ...
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 ...
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 ...
... 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 ...
Prenatal screening for aneuploidy". The New England Journal of Medicine. 360 (24): 2556-62. doi:10.1056/NEJMcp0900134. PMID ... Apart from sex chromosome disorders, most cases of aneuploidy result in death of the developing fetus (miscarriage); the most ...
Aneuploidy, a condition in which 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 ...
GLB1 Mosaic variegated aneuploidy syndrome; 257300; BUB1B Mowat-Wilson syndrome; 235730; ZEB2 Muckle-Wells syndrome; 191900; ...
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. ...
Aneuploidy Robinson WP (May 2000). "Mechanisms leading to uniparental disomy and their clinical consequences". BioEssays. 22 (5 ...
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- ...
Bharadwaj, Rajnish; Yu, Hongtao (2004). "The spindle checkpoint, aneuploidy, and cancer". Oncogene. 23 (11): 2016-27. doi: ...
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 ...
2008). "Aneuploidy: Cells Losing Their Balance". Genetics. 179 (2): 737-46. doi:10.1534/genetics.108.090878. PMC 2429870 . PMID ...
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. ...
Bianchi, DW; Platt LD; Goldberg JD; Abuhamad AZ; Sehnert AJ; Rava RP (2012). "Genome-wide fetal aneuploidy detection by ... 2002). "Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data". Prenatal ... February 27, 2014). "DNA sequencing versus standard prenatal aneuploidy screening". New England Journal of Medicine. 370 (9): ... February 27, 2014). "DNA sequencing versus standard prenatal aneuploidy screening". New England Journal of Medicine. 370 (9): ...
Cigarette smoke is a known aneugen (aneuploidy inducing agent). It is associated with increases in aneuploidy ranging from 1.5 ... Trisomy X is a form of sex chromosome aneuploidy where females have three instead of two X chromosomes. Most patients are only ... Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001). "Cigarette smoking and aneuploidy in human sperm". Mol. Reprod. ... Surveys of cases of human aneuploidy syndromes have shown that most of them are maternally derived. This raises the question: ...
"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: ...
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". ...
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. ...
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 ...
Klinefelters syndrome is a genetic disorder caused by a process known as "chromosome aneuploidy." Every cell in the human body ...
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, ...
About 8 percent of all conceptions are aneuploidy, and it is estimated that up to half of all abortions due to some kind of ... Sex chromosome abnormalities are the most frequent type of aneuploidy detected in humans, because the X-chromosome inactivation ... Chromosomal abnormalities in the form of the aneuploidy, and it is common among the people. ...
KEYWORDS: non-invasive prenatal diagnosis; cell-free fetal DNA; chromosomal aneuploidy; genetic screening ...
Klinefelter syndrome and other sex chromosomal aneuploidies.. Orphanet J Rare Dis. 2006;1:42. PubMed abstract / Full Text ... They can be differentiated definitively by genetic testing, which will demonstrate sex chromosome aneuploidy in individuals ... more accessible for prenatal detection of aneuploidies.. XXY syndrome should be considered in infants and children with ...
Symposium on Aneuploidy: Etiology and Mechanisms was held at the Carnegie Institution of Washington Auditorium from March 25- ... The Impact of Aneuploidy. * The Impact of Aneuploidy Upon Public Health: Mortality and Morbidity Associated with Human ... Etiological Aspects of Human Aneuploidy. * Meiotic Investigations of Aneuploidy in the Human ... lem of human aneuploidy, and whether exposure to environmental agents is assodated with an increased incidence of aneuploidy in ...
Aneuploidy Causes a Stress Response in Fission Yeast.. We next sought to determine whether aneuploidy causes a stress response ... Why is aneuploidy associated with a stress response? First, aneuploidy increases a cells energy needs. This may result from ... Aneuploidy Causes a Stress Response in Arabidopsis thaliana.. Based on the conserved transcriptional response to aneuploidy ... These results present aneuploidy as a complex phenomenon with potentially antitumorigenic properties. Although aneuploidy can ...
Tetraploidy, aneuploidy and cancer.. Ganem NJ1, Storchova Z, Pellman D.. Author information. 1. Department of Pediatric ... Aneuploidy is one of the most obvious differences between normal and cancer cells. However, there remains debate over how ...
... a situation known as aneuploidy. Explore symptoms, inheritance, genetics of this condition. ... Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of ... Genetic Testing Registry: Mosaic variegated aneuploidy syndrome *Genetic Testing Registry: Mosaic variegated aneuploidy ... Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of ...
The spindle checkpoint, aneuploidy, and cancer.. Bharadwaj R1, Yu H.. Author information. 1. Department of Pharmacology, UT ... Cancer cells contain abnormal number of chromosomes (aneuploidy), which is a prevalent form of genetic instability in human ... in a cell cycle surveillance mechanism called the spindle checkpoint contribute to chromosome instability and aneuploidy. In ...
More recent studies on whole chromosomal aneuploidy as well as segmental aneuploidy indicate that aneuploidy in S. pombe ... THE STUDIES OF ANEUPLOIDY: A LONG TRADITION. The first systematic analysis of the effects of aneuploidy on cell and organismal ... WHY DOES ANEUPLOIDY REDUCE ORGANISMAL FITNESS?. To understand the basis for the reduced fitness caused by aneuploidy, we must ... ANEUPLOIDY: CANCERS ACHILLES HEAL?. Given that most solid tumors are aneuploid, the cellular consequences of aneuploidy could ...
... at BellaOnline ... Reducing sperm aneuploidy may reduce pregnancy loss and up the chances of a live birth after ICSI. A natural L-Carnitine ... an elevated sperm aneuploidy rate is associated with a greater rate of pregnancy failure." (1). Fortunately, a natural ... Sperm aneuploidy is a little talked about sperm abnormality that has been linked with increased rates of miscarriage; ...
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 ...
... which is a source of chromosome segregation errors and aneuploidy. Excessive aneuploidy in ATIP3-deficient cells treated with ... Improving breast cancer sensitivity to paclitaxel by increasing aneuploidy. Sylvie Rodrigues-Ferreira, Anne Nehlig, Hadia ... Improving breast cancer sensitivity to paclitaxel by increasing aneuploidy. Sylvie Rodrigues-Ferreira, Anne Nehlig, Hadia ... Improving breast cancer sensitivity to paclitaxel by increasing aneuploidy Message Subject (Your Name) has sent you a message ...
Please Note: this test does not screen for aneuploidy of chromosome 21 (e.g. Trisomy 21 / Down syndrome). If the patient is ...
Taranissi M, El-Toukhy T, Gorgy A, Verlinsky Y. Influence of maternal age on the outcome of PGD for aneuploidy in patients with ... Rubio C, Rodrigo L, Perez-Cano, Mercader A, Mateu E, Buendia, Remohi J, Simon C, Pellicer A. FISH screening of aneuploidies in ... Munne S, Lee A, Rosenwak Z, Grifo J, Cohen J. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum ... Preimplantation genetic diagnosis Aneuploidy screening Discordance among blastomeres Chromosomal discordance This is a preview ...
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Performance of the Verinata Health Prenatal Aneuploidy Test Compared to Current Fetal Aneuploidy Screening Results and ... Comparison of Aneuploidy Risk Evaluations (CARE). The safety and scientific validity of this study is the responsibility of the ... The primary outcome of this study is the false positive rate of fetal aneuploidy detection for chromosome 21, 18, and 13 by the ... Women who plan or have already completed prenatal screening for fetal aneuploidy during first and/or second trimester, will be ...
163: Screening for Fetal Aneuploidy Obstet Gynecol. 2016 May;127(5):e123-37. doi: 10.1097/AOG.0000000000001406. ... Screening for aneuploidy should be an informed patient choice, with an underlying foundation of shared decision making that ... The purpose of prenatal screening for aneuploidy is to provide an assessment of the womans risk of carrying a fetus with one ... of the more common fetal aneuploidies. This is in contrast to prenatal diagnostic testing for genetic disorders, in which the ...
In cases in which aneuploidy is observed system-wide, the degree of aneuploidy is limited to only one additional chromosome and ... the tissue in which the aneuploidy occurs, and the genetic state of the cell that acquires the aneuploidy. It is also important ... Here aneuploidy is not restricted to one chromosome but the disease is characterized by a high degree of numeric as well as ... Aneuploidy is defined as the alteration of chromosome number that is not a multiple of the haploid complement. This condition ...
... J Cell Sci. 2008 Dec 1;121(Pt 23):3859-66. doi: 10.1242/jcs.039537. ... Both CIN and stable aneuploidy are commonly observed in cancers. Recently, it has been proposed that an increased number of ...
For example, aneuploidy might be alleviated by the epigenetic silencing of unpaired chromosomes (de la Casa-Esperon and S ... Aneuploidy and Genetic Variation in the Arabidopsis thaliana Triploid Response. Isabelle M. Henry, Brian P. Dilkes, Kim Young, ... Aneuploidy and Genetic Variation in the Arabidopsis thaliana Triploid Response. Isabelle M. Henry, Brian P. Dilkes, Kim Young, ... Aneuploidy and Genetic Variation in the Arabidopsis thaliana Triploid Response. Isabelle M. Henry, Brian P. Dilkes, Kim Young, ...
Non-Invasive Screening for Fetal Aneuploidy. The safety and scientific validity of this study is the responsibility of the ... Validate the prenatal aneuploidy LDT with blood samples from pregnant women who are undergoing invasive prenatal diagnosis [ ... Aneuploidy. Trisomy 18 Syndrome. Disease. Pathologic Processes. Intellectual Disability. Neurobehavioral Manifestations. ... Subject will receive results of a genetic analysis that includes evaluation of the fetus for aneuploidy ...
Most human tumors have abnormal numbers of chromosomes, a condition known as aneuploidy. The mitotic checkpoint is an important ... mechanism that prevents aneuploidy by restraining the activity of the anaphase-promoting complex (APC). The deubiquitinase ...
We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic ... analysis showed a mosaicism for a double aneuploidy, ... Cytogenetic analysis showed a mosaicism for a double aneuploidy ... Mosaic double aneuploidies are very rare and features of only one of the aneuploidies may predominate in childhood. Cytogenetic ... We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. ...
  • Sable D, Ferraretti AP, Massey JB, Scott R. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. (springer.com)
  • The majority of embryos with aneuploidy will not implant in the uterus or will result in a miscarriage . (fertilityauthority.com)
  • Because many embryos with aneuploidy are miscarried, the chances of miscarriage also increase as a woman ages. (fertilityauthority.com)
  • NEW YORK (GenomeWeb) - Over the last couple of years, researchers have demonstrated that a next-generation sequencing-based approach to detect chromosomal aneuploidies in embryos before they are implanted as part of an in vitro fertilization cycle can increase the success of IVF at a reasonable price. (genomeweb.com)
  • SAN CARLOS, Calif. , April 15, 2015 /PRNewswire/ -- Natera, Inc., a leader in non-invasive genetic testing, announced the publication of a study in the current issue of Science , which describes the identification of a genetic variant that influences the likelihood of aneuploidy in preimplantation embryos. (prnewswire.com)
  • The Petrov laboratory at Stanford University , in collaboration with scientists from Natera, studied more than 20,000 early stage embryos that were analyzed with the Spectrum™ preimplantation genetic screening test (PGS), to determine whether maternal genetic variations may affect aneuploidy rates. (prnewswire.com)
  • The study, entitled 'Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos ' can be found online at www.sciencemag.org . (prnewswire.com)
  • In this review, we summarize current knowledge on the causes and consequences of aneuploidy in hPSCs and highlight the potential links with genetic changes observed in human cancers and early embryos. (whiterose.ac.uk)
  • Aneuploidy screening is one means of decreasing the risk of genetic diseases in implanted embryos. (thefreedictionary.com)
  • The conclusions obtained were that ICM and ET quality can serve as a predictive value in terms of genetic diagnosis given that higher quality embryos have lower aneuploidy rates than embryos of a lower quality. (institutobernabeu.com)
  • Those which manage to develop and give rise to good quality blastocysts and, as a result, are able to undergo the embryo biopsy required for genetic analysis, have aneuploidy rates which are identical to those of symmetrical embryos observed on days 2 and 3 of embryo development. (institutobernabeu.com)
  • abstract = "Background: Aneuploidy has long been recognized to be associated with cancer. (elsevier.com)
  • Additionally, it has been suggested ( 21 ) that the phenotypes detected in the disomic strains may be a unique consequence of the method that was used to generate aneuploidy, in which genetic markers were used to select for rare chromosome transfer events between nuclei ( 13 ). (pnas.org)
  • aneuploidy simply means that there has been an error in cell division which created a genetic abnormality in the affected sperm. (bellaonline.com)
  • 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)
  • The test will analyze circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have an increased risk indicator/s for fetal chromosomal aneuploidy and are undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. (clinicaltrials.gov)
  • The results of the ccff aneuploidy test will be compared to the chromosomal analysis obtained via CVS or genetic amniocentesis. (clinicaltrials.gov)
  • Spectrum™ PGS incorporates parental genetic information, enabling accurate determination of chromosome copy numbers for each embryo, and also enabling the study's authors to differentiate between aneuploidy of meiotic origin vs. mitotic origin. (prnewswire.com)
  • 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. (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)
  • 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)
  • In addition, it was found that PL/J males exhibit both genetic and phenotypic complexity in regard to the traits of aneuploidy and abnormal sperm-head morphology. (tennessee.edu)
  • By exploring potential translational pathways in the context of one nascent application of genetic technology - prenatal aneuploidy testing using cell-free fetal DNA (cffDNA) - we illustrate how stakeholder perspectives may have significant and direct effects on the course of translation. (biomedcentral.com)
  • Simulation studies were performed to investigate the statistical behavior of the model.Conclusions: The model will provide a tool for estimating the effects of genetic loci on aneuploidy abnormality in genome-wide studies of cancer cells. (elsevier.com)
  • She is one of the primary authors of the forthcoming ASRM Committee Opinion publication, Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts. (sart.org)
  • Mosaic variegated aneuploidy (MVA), also known as Warburton-Ayane-Yeboa Syndrome, is classified by the Genetic and Rare Diseases (GARD) of the National Institute of Health (NIH) as a rare disease and has an autosomal recessive mode of inheritance . (oatext.com)
  • Its pre-implantation genetic testing includes aneuploidy screening , translocation testing and single gene testing. (thefreedictionary.com)
  • Evaluation of Fluorescent in situ hybridization (FISH) as a tool for rapid aneuploidy screening (RAS) of high risk pregnancies, before its approval in the national antenatal screening and genetic diagnosis program in Egypt. (springeropen.com)
  • The first systematic analysis of the effects of aneuploidy on cell and organismal physiology was performed more than a century ago in the sea urchins species Paracentrotus lividus , Echinus microtuberculatus , and Strongylocentrotus purpuratus by Theodor Boveri ( B overi 1902 , 1904 ). (genetics.org)
  • Here we summarize our recent findings on the effects of aneuploidy on cell physiology and proliferation. (aacrjournals.org)
  • To begin to shed light on this question, we characterized the effects of aneuploidy on mammalian cell proliferation and physiology. (aacrjournals.org)
  • Our work suggests that the changes of the microRNAome contribute on one hand to the adverse effects of aneuploidy on cell physiology, and on the other hand to the adaptation to aneuploidy by supporting translation under adverse conditions. (biomedcentral.com)
  • Recently developed aneuploid model systems in several different species have accelerated research on the effects of aneuploidy per se . (biomedcentral.com)
  • This approach not only enabled us to determine whether every chromosome when present in an extra copy interferes with proliferation, but also allowed us to determine whether a general response to aneuploidy exists. (aacrjournals.org)
  • There are many different types and origins of aneuploidy, but whether there is a uniform cellular response to aneuploidy in human cells has not been addressed so far. (uni-muenchen.de)
  • Given that the triggers of the transcriptional deregulations remain unclear, we asked whether microRNA (miRNA) regulation is involved in the response to aneuploidy. (biomedcentral.com)
  • While the underlying molecular mechanisms of these complex changes remain poorly understood, two striking features became apparent: i) there is a marked similarity in the cellular response to aneuploidy across species regardless of the identity of the extra chromosome, and ii) the findings fail to provide a plausible explanation for whether and how exactly aneuploidy per se promotes cancer. (embopress.org)
  • Recent progress in understanding the debated role of aneuploidy as a driver or passenger in malignant transformation, as well as how the. (lu.se)
  • 15- 17 In this brief review, the possible mechanisms responsible for aneuploidy and the role of aneuploidy in malignancy are discussed. (bmj.com)
  • The role of aneuploidy in cancer and reproductive biology has been investigated since the last century, but only relatively recently have technical advances translated early findings from basic science to experimental, pathological and epidemiological settings. (biomedcentral.com)
  • In this brief review, the various aspects of aneuploidy with special emphasis on its mechanism of development and impact on progression of cancer are discussed. (bmj.com)
  • Flow cytometry has been used to study the incidence of aneuploidy in a series of 55 colorectal adenomas (29 tubular adenomas, 22 tubulovillous adenomas, and 4 villous adenomas). (aacrjournals.org)
  • For several decades, many observations have demonstrated an incidence of aneuploidy along human chronological aging. (fightaging.org)
  • These data suggest that aneuploidy in various species is detrimental to cell fitness, and that many consequences of aneuploidy are a common response to chromosomewide dosage imbalances. (pnas.org)
  • These studies suggest that aneuploidy puts significant stress on the cell, which responds to this condition in what can be viewed as an aneuploidy stress response. (aacrjournals.org)
  • The chromatin-silencing defect of disome X can be partially recapitulated by an extra copy of several genes on chromosome X. These results suggest that aneuploidy can directly cause epigenetic instability and disrupt cellular differentiation. (elifesciences.org)
  • Scientists have long sought to understand what other factors may play a role in the development of aneuploidy. (prnewswire.com)
  • Failure of the spindle checkpoint caused by mutation of the responsible genes may be one of the important factors for the development of aneuploidy. (bmj.com)
  • Down regulation of lamin A/C in non-cancerous primary ovarian surface epithelial cells led to morphological deformation and development of aneuploidy. (biomedcentral.com)
  • The mitotic checkpoint is an important mechanism that prevents aneuploidy by restraining the activity of the anaphase-promoting complex (APC). (jci.org)
  • Within species, different aneuploidies induced similar changes in gene expression, independent of the specific chromosomal aberrations. (pnas.org)
  • To further our understanding of aneuploidy, we examined gene expression data from aneuploid cells from diverse organisms. (pnas.org)
  • Some people with TRIP13 gene mutations have chromosome abnormalities that indicate problems with chromosome sorting but do not develop aneuploidy. (medlineplus.gov)
  • It is also unclear how BUB1B or TRIP13 gene mutations or aneuploidy is involved in the other features of the condition. (medlineplus.gov)
  • In this article, we will first review the long history of the aneuploidy field and then provide a summary of the evidence to suggest that it is imbalances in gene dosage that cause the severe defects associated with aneuploidy. (genetics.org)
  • We can essentially reconstruct key pieces of the genome from an embryonic cell, allowing determination of the aneuploidy status of the embryo, as well as the tracking of single-gene mutations in one single test. (prnewswire.com)
  • The alternation of two life stages in different environments (extracellular promastigotes and intracellular amastigotes) offers a unique opportunity to study the impact of environment on aneuploidy and gene expression. (asm.org)
  • Changes in chromosome copy numbers were correlated with the corresponding transcript levels, but additional aneuploidy-independent regulation of gene expression was observed. (asm.org)
  • Leishmania lacks classical regulation of transcription at initiation through promoters, so aneuploidy could represent a major adaptive strategy of this parasite to modulate gene dosage in response to stressful environments. (asm.org)
  • The widespread but mostly moderate gene expression changes caused by aneuploidy lead to quantitative alterations in cell growth under a wide range of environmental conditions. (elifesciences.org)
  • For 144 patients, gene expression data were available to explore aneuploidy-related transcriptional alterations. (uib.no)
  • 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)
  • Mosaic double aneuploidies are very rare and features of only one of the aneuploidies may predominate in childhood. (biomedsearch.com)
  • Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. (sigmaaldrich.com)
  • After taking the patients' consent, the WES results of the couple revealed them both to be carriers of a previously unreported heterozygous variant of the CEP57 mutation resulting in multiple pregnancies with type 2 mosaic variegated aneuploidy that were incompatible with life. (oatext.com)
  • Diagnosis of mosaic sex chromosome aneuploidy as a supplement to conventional chromosome studies in patients with normal or uncertain chromosome results or when an alternative tissue needs to be studied. (testcatalog.org)
  • Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. (semanticscholar.org)
  • We will then discuss the molecular basis for the defects caused by aneuploidy and end with speculations as to whether and how aneuploidy, despite its deleterious effects on organismal and cellular fitness, contributes to tumorigenesis. (genetics.org)
  • 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)
  • The most prominent disease in which aneuploidy is observed at the cellular level is cancer, a disease of hyper-proliferation. (aacrjournals.org)
  • Our model should allow studies of the impact of aneuploidy on molecular adaptations and cellular fitness. (asm.org)
  • Aneuploidy and epigenetic alterations have long been associated with carcinogenesis, but it was unknown whether aneuploidy could disrupt the epigenetic states required for cellular differentiation. (elifesciences.org)
  • However, the existing yeast studies have not addressed whether aneuploidy has the potential to alter the stable epigenetic states correlated with cellular differentiation. (elifesciences.org)
  • Yet, what makes aneuploidy so detrimental to cellular physiology has been difficult to tackle. (embopress.org)
  • Chromosome transfer induced aneuploidy results in complex dysregulation of the cellular transcriptome in immortalized and cancer cells. (semanticscholar.org)
  • Internal cellular mass and trophectoderm quality indicate embryo aneuploidy percentage. (institutobernabeu.com)
  • 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)
  • 3. Determine whether a more precise risk for aneuploidy can be generated in the setting of low fetal fraction by incorporating maternal BMI (adjusted fetal fraction percentile). (clinicalconnection.com)
  • the comparison of peak profiles obtained from IUL, placental, and maternal samples confirmed the diagnosis of aneuploidy in all three cases. (hindawi.com)
  • It is well known that the rate of aneuploidy increases with maternal age, especially after age 35. (prnewswire.com)
  • According to the study, the increased rate of aneuploidy for individuals carrying two copies of the risk variant is roughly similar to an additional 1.8 years of maternal age for mothers 35 years old or older. (prnewswire.com)
  • Maternal plasma samples were gathered at 27 prenatal diagnostic centers from women at high risk of fetal aneuploidy who were undergoing diagnostic testing in the late first and early second trimesters. (contemporaryobgyn.net)
  • We hope that these cell lines can assist in the development of the first aneuploidy reference material," said Susan J. Fisher, Ph.D., Professor, and Katherine Bianco, M.D., former Assistant Professor, in the Division of Maternal-Fetal Medicine at UCSF. (seracare.com)
  • In humans, aneuploidy is linked to pathological defects such as developmental abnormalities, mental retardation or cancer, but the underlying mechanisms remain elusive. (uni-muenchen.de)
  • In humans, aneuploidy is the major cause of spontaneous abortions and the few trisomies compatible with survival result in severe developmental defects [ 1 ]. (biomedcentral.com)
  • Aneuploidy can be detected with the help of traditional metaphase cytogenetics, interphase cytogenetics (fluorescent in situ hybridisation (FISH), multicolour FISH, spectral karyotyping, and comparative genomic hybridisation techniques (CGH)), flow cytometry (FCM), and image cytometry (ICM). (bmj.com)
  • The aim of this study was to investigate the relationship between tobacco smoke habit, patient age, DNA aneuploidy and genomic DNA copy number aberrations (CNAs) in oral potentially malignant disorder (OPMD) and oral squamous cell carcinoma (OSCC) patients. (pubmedcentralcanada.ca)
  • DNA aneuploidy and mean nuclear genomic aberrations were associated with patients' age. (pubmedcentralcanada.ca)
  • Further studies provided also evidences of an association between DNA aneuploidy with high-risk oral mucosa subsites [ 12 ] and with genomic copy number aberrations [ 13 ]. (pubmedcentralcanada.ca)
  • We believe that the translational framework that we have developed will help guide crucial future stakeholder mapping and engagement activities for cffDNA aneuploidy testing and inform novel methods of technology assessment for other developments in the growing field of genomic medicine. (biomedcentral.com)
  • 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)
  • However, the proof that DNA aneuploidy can predict the progression of given OPMD in a clinical setting is still missing and the same applies for some molecular markers, such as p53 (TP53), Cyclin D1, and podoplanin (PDPN), HIF-1alpha, E-cadherin, and p63, which were also investigated [ 14 , 15 ]. (pubmedcentralcanada.ca)
  • Clinical and biological significance of aneuploidy in human tumours. (bmj.com)
  • Aneuploidy is a well recognised feature of human tumours, but the investigation of its biological and clinical significance has been hampered by technological constraints. (bmj.com)
  • Leishmania -a protozoan parasite that kills more than 30,000 people each year-is emerging as a new model for aneuploidy studies, as unexpectedly high levels of aneuploidy are found in clinical isolates. (asm.org)
  • This study aimed to detect the prevalence of aneuploidy in chromosome 8 among Egyptian patients who presented with acute myeloid leukemia and to assess the impact of chromosome 8 aneuploidy on the clinical and haematological presentation of the studied cases. (omicsonline.org)
  • Aneuploidy is a widely studied prognostic marker in endometrial cancer (EC), however, not implemented in clinical decision-making. (uib.no)
  • We discuss the autosomal (13, 18, and 21) and sex chromosome (X, Y) aneuploidies that can be expected in the neonatal health care setting, including clinical signs and symptoms that may be indications for further study. (aappublications.org)
  • Additionally, SeraCare Life Sciences also announced the launch today of its Early Access Program for the first ever circulating cell-free fetal DNA (cfDNA) T21, T18, and T13 aneuploidy reference materials, developed using the UCSF cell technology. (seracare.com)
  • Aneuploidy can happen in any pregnancy, but the chances increase as a woman ages. (fertilityauthority.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)
  • Reliable and easy to use AutoDELFIA instrument offers high quality results both for aneuploidy and pre-eclampsia risk assessment during pregnancy. (perkinelmer.com)
  • Section 2 will discuss potential therapeutics for preventing AMA oocyte and fetal aneuploidy, and for increaseing pregnancy and livebirth rates. (frontiersin.org)
  • 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)
  • In humans, disease conditions have been described in which aneuploidy affects the entire individual or a subset of cells. (aacrjournals.org)
  • Environmental Causes of Aneuploidy: Why So Elusive? (springer.com)
  • Natera is the only laboratory whose PGS test can differentiate between meiotic and mitotic origins of aneuploidy. (prnewswire.com)
  • Long-term overexpression of Aurora B in vivo results in aneuploidy and the development of multiple spontaneous tumors in adult mice, including a high incidence of lymphomas. (asm.org)
  • CIN often results in aneuploidy. (wikipedia.org)
  • We found the induction of aneuploidy population potentiates adaptability. (ku.edu)
  • Indeed, we show that up to 72% of these targets are downregulated and the associated miRNAs are overexpressed in aneuploid cells, suggesting that the miRNA changes contribute to the global transcription changes triggered by aneuploidy. (biomedcentral.com)
  • Of the 65 studies, 42 enrolled pregnant women at high risk, five recruited an unselected population and 18 recruited cohorts with a mix of prior risk of fetal aneuploidy. (unboundmedicine.com)
  • However simple structural changes without numerical chromosomal aberration should not be considered as aneuploidy. (bmj.com)
  • The structural and numerical chromosomal changes result in an increasing shift of the overall DNA content of the cells, a phenomenon commonly referred to as aneuploidy. (aacrjournals.org)
  • Unexpectedly, a new study published in this issue of The EMBO Journal shows that in murine embryonic stem cells aneuploidy does not interfere with proliferation, but rather hinders their differentiation capacity, thus propelling the formation of poorly differentiated teratomas. (embopress.org)