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.

*  Chromosomal and cytoplasmic context determines predisposition to maternal age-related aneuploidy: brief overview and update on...
Constitutional and acquired autosomal aneuploidy.. Jackson-Cook C., Clin. Lab. Med. 31(4), 2011 PMID: 22118733 ... Chromosomal and cytoplasmic context determines predisposition to maternal age-related aneuploidy: brief overview and update on ... Chromosomal and cytoplasmic context determines predisposition to maternal age-related aneuploidy: brief overview and update on ... "Chromosomal and cytoplasmic context determines predisposition to maternal age-related aneuploidy: brief overview and update on ...
*  Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci -...
If you are a society or association member and require assistance with obtaining online access instructions please contact our Journal Customer Services team ...
*  Embryonic Lethality and Tumorigenesis Caused by Segmental Aneuploidy on Mouse Chromosome 11 | Genetics
1972 Segmental aneuploidy and the genetic gross structure of the Drosophila genome. Genetics 71: 157-184. ... Embryonic Lethality and Tumorigenesis Caused by Segmental Aneuploidy on Mouse Chromosome 11. Pentao Liu, Heju Zhang, Andrew ... Embryonic Lethality and Tumorigenesis Caused by Segmental Aneuploidy on Mouse Chromosome 11. Pentao Liu, Heju Zhang, Andrew ... Embryonic Lethality and Tumorigenesis Caused by Segmental Aneuploidy on Mouse Chromosome 11. Pentao Liu, Heju Zhang, Andrew ...
*  The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way?
... Davidsson, Josef LU (2014) In Epigenomics 6( ... The current knowledge of the genetic and epigenetic consequences of aneuploidy is reviewed herein, with a special focus on ... Recent progress in understanding the debated role of aneuploidy as a driver or passenger in malignant transformation, as well ... The current knowledge of the genetic and epigenetic consequences of aneuploidy is reviewed herein, with a special focus on ...
*  Caspase-2, one of the most conserved of the caspase family members
... aneuploidy).3 NVP-BEP800 As the most common chromosome abnormality in individuals, aneuploidy is the most common chromosome ... Outcomes lacking cells are a book model of aneuploidy To check how caspase-2 reduction might business lead to aneuploidy, we ... To address this crucial issue, we set up an program for aneuploidy using major cells or utilized a human being cell collection ... It can be also uncertain whether aneuploidy noticed in tumours and MEFs can be a outcome of caspase-2 function in marketing ...
*  Investigation of the Impact of Noninvasive Prenatal Testing for Fetal Aneuploidy on Utilization of Prenatal Diagnostic...
MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group. Genome-wide fetal aneuploidy detection ... Investigation of the Impact of Noninvasive Prenatal Testing for Fetal Aneuploidy on Utilization of Prenatal Diagnostic ... Referred for prenatal genetic counseling due to increased risk for fetal aneuploidy (advanced maternal age (AMA ≥ 35 years at ... between a prospectively enrolled cohort of pregnant women at high-risk for fetal aneuploidy who are offered noninvasive ...
*  PLOS ONE: Tumor-Specific Chromosome Mis-Segregation Controls Cancer Plasticity by Maintaining Tumor Heterogeneity
Aneuploidy with chromosome instability is a cancer hallmark. We studied chromosome 7 (Chr7) copy number variation (CNV) in ... B, comparison of tumor heterogeneity with regard to chromosome 7 (Chr7) aneuploidy in the original tumor (T) and corresponding ...
*  Fertility Trends for 2012: FertilityAuthority
Aneuploidy is the term used to describe an abnormal number of chromosomes, and majority of embryos with aneuploidy will not ... Many fertility clinics are now offering preimplantation genetic screening (PGS) for aneuploidy. One method that is gaining much ... may want to ask their fertility doctors about PGS or CCS for aneuploidy screening. ... Genetic screening of embryos for aneuploidy. A normal embryo has 23 pairs of chromosomes, including an XX or an XY to determine ...
*  Aneuploidy
... On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full ... Aneuploidy. The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of chromosomes, ... Detailed information through a personalized searchRanked list of diseases related to "Aneuploidy"Drugs, active principles and " ...
*  Comprehensive Chromosomal Screening: IVF: FertilityAuthority
... the first technology capable of accurate aneuploidy screening (screening of embryos for abnormal number of chromosomes) of all ... The results indicated that the screening method and the subsequent transfers of blastocysts with no aneuploidy resulted in an ... the first technology capable of accurate aneuploidy screening (screening of embryos for abnormal number of chromosomes) of all ...
*  Aneuploidy: Cancer's Fatal Flaw? | Cancer Research
In cases in which aneuploidy is observed system-wide, the degree of aneuploidy is limited to only one additional chromosome and ... the tissue in which the aneuploidy occurs, and the genetic state of the cell that acquires the aneuploidy. It is also important ... Here aneuploidy is not restricted to one chromosome but the disease is characterized by a high degree of numeric as well as ... Aneuploidy is defined as the alteration of chromosome number that is not a multiple of the haploid complement. This condition ...
*  aneuploidy
Genomic entropy drives aneuploidy Ed Park, MD. 07/14/2017. age-related-diseases, aging, cancer, dr ed park, stem cell theory of ... AginganeuploidyATMbrca1brca2breast cancercancercell cycledna repairEd Parkkomenli-fraumeniMRNnon-dysjunctionp53progeriarecharge ... Aginganeuploidybill andrewscancerchimerismchromothirpsisDr. Ed Parkgenetic driftmosicstem cellstelomere timebombstelomeres ... aneuploidyautismdr parkfecundityfertilitypaternal agepronatlaismspermtelomerasetelomere ...
*  Mosaic double aneuploidy: Down syndrome and XYY.
We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic ... analysis showed a mosaicism for a double aneuploidy, ... Cytogenetic analysis showed a mosaicism for a double aneuploidy ... Mosaic double aneuploidies are very rare and features of only one of the aneuploidies may predominate in childhood. Cytogenetic ... We report a 5-year-old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. ...
*  Comparison of Aneuploidy Risk Evaluations - Full Text View -
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 ...
*  Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. | Sigma-Aldrich
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.. [Katie Snape, Sandra Hanks, Elise Ruark, Patricio Barros-Núñez ... loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is ...
*  Recent Articles | Aneuploidy, Disease/Medicine And Evolution | The Scientist Magazine®
Medical organizations endorse the "Undetectable = Untransmissible" campaign, which aims to raise awareness of scientific evidence showing that virally suppressed people living with HIV cannot infect others.. 0 Comments. ...,6,8/tags/aneuploidy,disease-medicine,evolution/
*  Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial - Full Text View -
Aneuploidy. Non-invasive Prenatal Diagnosis. Prenatal Blood Test. Prenatal Aneuploidy Screening. Trisomy 13. Trisomy 18. ... Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial (PreNATUS). This study is ongoing, but not recruiting participants. ... Sensitivity and Specificity of the test to diagnose aneuploidy in a fetus at chromosomes 13, 18, 21, X and Y. [ Time Frame: ... Aneuploidy. Trisomy. Down Syndrome. Chromosome Aberrations. Pathologic Processes. Chromosome Duplication. Intellectual ...
* : New insights into aneuploidy in mammalian oocytes
New insights into aneuploidy in mammalian oocytes. Add to your list(s) Download to your calendar using vCal ... University of Cambridge , , Gurdon Institute Seminar Series , New insights into aneuploidy in mammalian oocytes ...
*  Allelic Variation, Aneuploidy and Non-Genetic Mechanisms Suppress a Monogenic Trait in Yeast | Genetics
Allelic Variation, Aneuploidy and Non-Genetic Mechanisms Suppress a Monogenic Trait in Yeast. Amy Sirr, Gareth A. Cromie, Eric ... Allelic Variation, Aneuploidy and Non-Genetic Mechanisms Suppress a Monogenic Trait in Yeast. Amy Sirr, Gareth A. Cromie, Eric ... Allelic Variation, Aneuploidy and Non-Genetic Mechanisms Suppress a Monogenic Trait in Yeast. Amy Sirr, Gareth A. Cromie, Eric ... Allelic Variation, Aneuploidy and Non-Genetic Mechanisms Suppress a Monogenic Trait in Yeast ...
*  Detection of Fetal Aneuploidies by QF-PCR in Transcervical Cell Samples
Detection of Fetal Aneuploidies by QF-PCR in Transcervical Cell Samples. Riccardo Cioni, Cecilia Bussani, and Mariarosaria Di ... This study suggests that the detection of chromosomal aneuploidies in micromanipulated TCC samples can be achieved by QF-PCR ... To evaluate the accuracy in the diagnosis of aneuploidies of a quantitative fluorescent polymerase chain reaction (QF-PCR) ... and maternal samples confirmed the diagnosis of aneuploidy in all three cases. Conclusion. ...
*  Aneuploidy and malignancy: an unsolved equation | Journal of Clinical Pathology
TYPES OF ANEUPLOIDY. In the case of aneuploidy, the cell may gain or lose one or more chromosomes. Cells with less than a ... ANEUPLOIDY AND CARCINOGENESIS. It is still not clear whether aneuploidy is simply a non-specific state that occurs ... First, aneuploidy fails to explain the slow kinetics of carcinogenesis. Second, there are a few diploid cancers and aneuploidy ... "Despite the presence of a high frequency of aneuploidy in cancer, we still do not know the exact role of aneuploidy in ...
*  Unique features of the transcriptional response to model aneuploidy in human cells
There are many different types and origins of aneuploidy, but whether there is a uniform cellular response to aneuploidy in ... Strikingly, complex aneuploidy elicits the same transcriptional changes as trisomy. To uncover the triggers of the response, we ... In humans, aneuploidy is linked to pathological defects such as developmental abnormalities, mental retardation or cancer, but ... Moreover, the potential aneuploidy markers identified in our analysis might represent novel biomarkers to assess the malignant ...

Yury VerlinskyGenetic imbalance: Genetic imbalance is to describe situation when the genome of a cell or organism has more copies of some genes than other genes due to chromosomal rearrangements or aneuploidy.Immortal DNA strand hypothesis: The immortal DNA strand hypothesis was proposed in 1975 by John Cairns as a mechanism for adult stem cells to minimize mutations in their genomes.Cairns, J.Trisomy 9Confined placental mosaicism: Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the baby. CPM was first described by Kalousek and Dill in 1983.PaleopolyploidySpermiogenesis: Spermiogenesis is the final stage of spermatogenesis, which sees the maturation of spermatids into mature, motile spermatozoa. The spermatid is more or less circular cell containing a nucleus, Golgi apparatus, centriole and mitochondria.HesperadinNational Down Syndrome SocietyCentrosome cycle: Centrosomes are the major microtubule organizing center (MTOC) in mammalian cells. Failure of centrosome regulation can cause mistakes in chromosome segregation and is associated with aneuploidy.Bookmarking: Bookmarking (also "gene bookmarking" or "mitotic bookmarking") refers to a potential mechanism of transmission of gene expression programs through cell division.Prenatal nutrition: Nutrition and weight management before and during :pregnancy has a profound effect on the development of infants. This is a rather critical time for healthy fetal development as infants rely heavily on maternal stores and nutrient for optimal growth and health outcome later in life.Spindle apparatus: In cell biology, the spindle apparatus refers to the subcellular structure of eukaryotic cells that separates chromosomes between daughter cells during cell division. It is also referred to as the mitotic spindle during mitosis, a process that produces genetically identical daughter cells, or the meiotic spindle during meiosis, a process that produces gametes with half the number of chromosomes of the parent cell.Male infertilityPremature chromosome condensation: Premature chromosome condensation (PCC) occurs in eukaryotic organisms when mitotic cells fuse with interphase cells. Chromatin, a substance that contains genetic material such as DNA, is normally found in a loose bundle inside a cell's nucleus.Prenatal diagnosis: Prenatal diagnosis or prenatal screening (note that prenatal diagnosis and prenatal screening refer to two different types of tests) is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic disorders and other conditions, such as spina bifida, cleft palate, Tay Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, Muscular dystrophy, and fragile X syndrome.Metaphase: Metaphase (from the Greek μετά, "adjacent" and φάσις, "stage") is a stage of mitosis in the eukaryotic cell cycle in which chromosomes are at their second-most condensed and coiled stage (they are at their most condensed in anaphase. These chromosomes, carrying genetic information, align in the equator of the cell before being separated into each of the two daughter cells.Polysomy: Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e.PCDHY: PCDH11Y is a gene unique to human males which competes with FOXP2 for the title of the "language gene." PCDH11Y is the gene for making Protocadherin 11Y, a protein that guides the development of nerve cells.PRINS (gene): PRINS (psoriasis associated RNA induced by stress) is a long non-coding RNA. Its expression is induced by stress, and it may have a protective role in cells exposed to stress.Aurora inhibitorFNA Mapping: Fine needle aspiration (FNA) cytology has been used to examine pathological human tissue from various organs for over 100 years.,Posner C.Reproductive technology: Reproductive technology (RT) encompasses all current and anticipated uses of technology in human and animal reproduction, including assisted reproductive technology, contraception and others.Oocyte selection: Oocyte selection is a procedure that is performed prior to in vitro fertilization, in order to use oocytes with maximal chances of resulting in pregnancy. In contrast, embryo selection takes place after fertilization.Establishment of sister chromatid cohesion: Sister chromatid cohesion refers to the process by which sister chromatids are paired and held together during certain phases of the cell cycle. Establishment of sister chromatid cohesion is the process by which chromatin-associated cohesin protein becomes competent to physically bind together the sister chromatids.Kinetochore: The kinetochore is the protein structure on chromatids where the spindle fibers attach during cell division to pull sister chromatids apart.Autofocus: An autofocus (or AF) optical system uses a sensor, a control system and a motor or tunable optical element to focus [or on a manually selected point or area. An electronic rangefinder] has a display instead of the motor; the adjustment of the optical system has to be done manually until indication.Flow cytometry: In biotechnology, flow cytometry is a laser-based, biophysical technology employed in cell counting, cell sorting, biomarker detection and protein engineering, by suspending cells in a stream of fluid and passing them by an electronic detection apparatus. It allows simultaneous multiparametric analysis of the physical and chemical characteristics of up to thousands of particles per second.Tetrasomy 9p: Tetrasomy 9p (also known Tetrasomy 9p Syndrome) is a rare chromosomal disorder characterized by the presence of two extra copies of the short arm of chromosome 9 (called the p arm), in addition to the usual two. Symptoms of tetrasomy 9p vary widely among affected individuals, but typically include varying degrees of delayed growth, abnormal facial features, and intellectual disability.Smith–Fineman–Myers syndrome: Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), is a rare X-linked recessive congenital disorder that causes birth defects. This syndrome was named after 3 men, Richard D.CentromereDemecolcine

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

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)

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

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)

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

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)

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

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)

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

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)

(6/2123) Chromosome abnormalities in human embryos.

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)

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

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)

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

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)

  • role of aneuploidy
  • 15- 17 In this brief review, the possible mechanisms responsible for aneuploidy and the role of aneuploidy in malignancy are discussed. (
  • Recent progress in understanding the debated role of aneuploidy as a driver or passenger in malignant transformation, as well as how the. (
  • 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. (
  • Genomic
  • 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). (
  • 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. (
  • DNA aneuploidy and mean nuclear genomic aberrations were associated with patients' age. (
  • 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 ]. (
  • somatic
  • Meiosis II-nondisjunction may also result in aneuploidy syndromes, but only to a much smaller extent than do segregation failures in meiosis I. Division of somatic cells through mitosis is preceded by replication of the genetic material in S phase. (
  • fetus
  • This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA in the maternal blood. (
  • Aneuploidy of autosomes is not well tolerated and usually results in miscarriage of the developing fetus. (
  • frequent
  • Our results identified multiple distinct solutions by which the monogenic trait could be suppressed, including genetic and non-genetic mechanisms as well as frequent aneuploidy. (
  • Examples include: In cancer cells, aneuploidy is a frequent event, indicating that these cells present a defect in the machinery involved in chromosome segregation, as well as in the mechanism ensuring that segregation is correctly performed. (
  • diploid
  • Aneuploidy has frequently been noted in many solid tumours, and occasionally a few uterine carcinoma and prostatic carcinomas have been reported to be diploid (table 1). (
  • mechanisms
  • In humans, aneuploidy is linked to pathological defects such as developmental abnormalities, mental retardation or cancer, but the underlying mechanisms remain elusive. (
  • dysplasia
  • Further, we have studied the long-term outcome for patients who had an early onset of disease and analysed the expression of cytokeratin 7 and 20 in respect to findings of dysplasia, DNA aneuploidy and colorectal cancer. (
  • The sensitivity of aneuploidy for development of dysplasia (LGD or higher) was found to be 0.50 and the specificity 0.94. (
  • result
  • Unlike single gene disorders, diseases caused by aneuploidy are the result of improper gene dosage, not nonfunctional gene product. (
  • progression
  • 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. (
  • 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 ]. (
  • cellular
  • 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 ). (
  • 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. (
  • cell
  • 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. (
  • Topics include antioxidant therapies, dehydroepiandrosterone, stem cell therapies, telomere elongatation, low dose gonadotorpins in IVF-ET, and prevention of oocyte aneuploidy and infertility using hormone normalization therapies (HNTs) that lower FSH and blockade activin receptor signaling. (
  • human
  • Clinical and biological significance of aneuploidy in human tumours. (
  • Aneuploidy is a well recognised feature of human tumours, but the investigation of its biological and clinical significance has been hampered by technological constraints. (
  • Surveys of cases of human aneuploidy syndromes have shown that most of them are maternally derived. (
  • cells
  • To evaluate the accuracy in the diagnosis of aneuploidies of a quantitative fluorescent polymerase chain reaction (QF-PCR) assay on trophoblastic cells recovered from transcervical cells samples (TCCs) collected by intrauterine lavage (IUL). (
  • findings
  • 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. (
  • maternal
  • the comparison of peak profiles obtained from IUL, placental, and maternal samples confirmed the diagnosis of aneuploidy in all three cases. (
  • present
  • Cytogenetic analysis is recommended even if the typical features of a recognized aneuploidy are present so that any associated abnormality may be detected. (
  • cause
  • We still do not know the exact answers to these questions and there is much controversy about the cause and effect of aneuploidy related to carcinogenesis. (