The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Mapping of the KARYOTYPE of a cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
The degree of replication of the chromosome set in the karyotype.
The possession of a third chromosome of any one type in an otherwise diploid cell.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A variation from the normal set of chromosomes characteristic of a species.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility.
Agents which affect CELL DIVISION and the MITOTIC SPINDLE APPARATUS resulting in the loss or gain of whole CHROMOSOMES, thereby inducing an ANEUPLOIDY.
Minute cells produced during development of an OOCYTE as it undergoes MEIOSIS. A polar body contains one of the nuclei derived from the first or second meiotic CELL DIVISION. Polar bodies have practically no CYTOPLASM. They are eventually discarded by the oocyte. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
The cell center, consisting of a pair of CENTRIOLES surrounded by a cloud of amorphous material called the pericentriolar region. During interphase, the centrosome nucleates microtubule outgrowth. The centrosome duplicates and, during mitosis, separates to form the two poles of the mitotic spindle (MITOTIC SPINDLE APPARATUS).
Mad2 is a component of the spindle-assembly checkpoint apparatus. It binds to and inhibits the Cdc20 activator subunit of the anaphase-promoting complex, preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Mad2 is required for proper microtubule capture at KINETOCHORES.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
The age of the mother in PREGNANCY.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Abnormal genetic constitution in males characterized by an extra Y chromosome.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
DNA present in neoplastic tissue.
A technique that labels specific sequences in whole chromosomes by in situ DNA chain elongation or PCR (polymerase chain reaction).
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.
A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.
The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra.
Analysis of the level of specific BIOMARKERS in a pregnant woman's sera to identify those at risk for PREGNANCY COMPLICATIONS or BIRTH DEFECTS.
An assisted fertilization technique consisting of the microinjection of a single viable sperm into an extracted ovum. It is used principally to overcome low sperm count, low sperm motility, inability of sperm to penetrate the egg, or other conditions related to male infertility (INFERTILITY, MALE).
The cellular signaling system that halts the progression of cells through MITOSIS or MEIOSIS if a defect that will affect CHROMOSOME SEGREGATION is detected.
Female germ cells derived from OOGONIA and termed OOCYTES when they enter MEIOSIS. The primary oocytes begin meiosis but are arrested at the diplotene state until OVULATION at PUBERTY to give rise to haploid secondary oocytes or ova (OVUM).
The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.
An aurora kinase that localizes to the CENTROSOME during MITOSIS and is involved in centrosome regulation and formation of the MITOTIC SPINDLE. Aurora A overexpression in many malignant tumor types suggests that it may be directly involved in NEOPLASTIC CELL TRANSFORMATION.
The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation.
Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.
Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions.
3-(p-Fluorophenyl)-alanine.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
A technique encompassing morphometry, densitometry, neural networks, and expert systems that has numerous clinical and research applications and is particularly useful in anatomic pathology for the study of malignant lesions. The most common current application of image cytometry is for DNA analysis, followed by quantitation of immunohistochemical staining.
Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
The possession of four chromosomes of any one type in an otherwise diploid cell.
A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.
A prenatal ultrasonography measurement of the soft tissue behind the fetal neck. Either the translucent area below the skin in the back of the fetal neck (nuchal translucency) or the distance between occipital bone to the outer skin line (nuchal fold) is measured.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Undifferentiated cells resulting from cleavage of a fertilized egg (ZYGOTE). Inside the intact ZONA PELLUCIDA, each cleavage yields two blastomeres of about half size of the parent cell. Up to the 8-cell stage, all of the blastomeres are totipotent. The 16-cell MORULA contains outer cells and inner cells.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
An alkaloid isolated from Colchicum autumnale L. and used as an antineoplastic.
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.

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

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

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

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

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

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

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

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

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

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

Chromosome abnormalities in human embryos. (6/2123)

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

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

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

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

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

Aneuploidy is a medical term that refers to an abnormal number of chromosomes in a cell. Chromosomes are thread-like structures located inside the nucleus of cells that contain genetic information in the form of genes.

In humans, the normal number of chromosomes in a cell is 46, arranged in 23 pairs. Aneuploidy occurs when there is an extra or missing chromosome in one or more of these pairs. For example, Down syndrome is a condition that results from an extra copy of chromosome 21, also known as trisomy 21.

Aneuploidy can arise during the formation of gametes (sperm or egg cells) due to errors in the process of cell division called meiosis. These errors can result in eggs or sperm with an abnormal number of chromosomes, which can then lead to aneuploidy in the resulting embryo.

Aneuploidy is a significant cause of birth defects and miscarriages. The severity of the condition depends on which chromosomes are affected and the extent of the abnormality. In some cases, aneuploidy may have no noticeable effects, while in others it can lead to serious health problems or developmental delays.

Chromosomal instability is a term used in genetics to describe a type of genetic alteration where there are abnormalities in the number or structure of chromosomes within cells. Chromosomes are thread-like structures that contain our genetic material, and they usually exist in pairs in the nucleus of a cell.

Chromosomal instability can arise due to various factors, including errors in DNA replication or repair, problems during cell division, or exposure to environmental mutagens. This instability can lead to an increased frequency of chromosomal abnormalities, such as deletions, duplications, translocations, or changes in the number of chromosomes.

Chromosomal instability is associated with several human diseases, including cancer. In cancer cells, chromosomal instability can contribute to tumor heterogeneity, drug resistance, and disease progression. It is also observed in certain genetic disorders, such as Down syndrome, where an extra copy of chromosome 21 is present, and in some rare inherited syndromes, such as Bloom syndrome and Fanconi anemia, which are characterized by a high risk of cancer and other health problems.

In situ hybridization, fluorescence (FISH) is a type of molecular cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes through the use of fluorescent probes. This technique allows for the direct visualization of genetic material at a cellular level, making it possible to identify chromosomal abnormalities such as deletions, duplications, translocations, and other rearrangements.

The process involves denaturing the DNA in the sample to separate the double-stranded molecules into single strands, then adding fluorescently labeled probes that are complementary to the target DNA sequence. The probe hybridizes to the complementary sequence in the sample, and the location of the probe is detected by fluorescence microscopy.

FISH has a wide range of applications in both clinical and research settings, including prenatal diagnosis, cancer diagnosis and monitoring, and the study of gene expression and regulation. It is a powerful tool for identifying genetic abnormalities and understanding their role in human disease.

Preimplantation Diagnosis (PID) is a genetic testing procedure performed on embryos created through in vitro fertilization (IVF), before they are implanted in the uterus. The purpose of PID is to identify genetic disorders or chromosomal abnormalities in the embryos, allowing only those free of such issues to be transferred to the uterus, thereby reducing the risk of passing on genetic diseases to offspring. It involves biopsying one or more cells from an embryo and analyzing its DNA for specific genetic disorders or chromosomal abnormalities. PID is often recommended for couples with a known history of genetic disorders or those who have experienced multiple miscarriages or failed IVF cycles.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

Chromosome segregation is the process that occurs during cell division (mitosis or meiosis) where replicated chromosomes are separated and distributed equally into two daughter cells. Each chromosome consists of two sister chromatids, which are identical copies of genetic material. During chromosome segregation, these sister chromatids are pulled apart by a structure called the mitotic spindle and moved to opposite poles of the cell. This ensures that each new cell receives one copy of each chromosome, preserving the correct number and composition of chromosomes in the organism.

Ploidy is a term used in genetics to describe the number of sets of chromosomes in a cell or an organism. The ploidy level can have important implications for genetic inheritance and expression, as well as for evolutionary processes such as speciation and hybridization.

In most animals, including humans, the normal ploidy level is diploid, meaning that each cell contains two sets of chromosomes - one set inherited from each parent. However, there are also many examples of polyploidy, in which an organism has more than two sets of chromosomes.

Polyploidy can arise through various mechanisms, such as genome duplication or hybridization between different species. In some cases, polyploidy may confer evolutionary advantages, such as increased genetic diversity and adaptability to new environments. However, it can also lead to reproductive isolation and the formation of new species.

In plants, polyploidy is relatively common and has played a significant role in their evolution and diversification. Many crop plants are polyploids, including wheat, cotton, and tobacco. In some cases, artificial induction of polyploidy has been used to create new varieties with desirable traits for agriculture and horticulture.

Overall, ploidy is an important concept in genetics and evolution, with implications for a wide range of biological processes and phenomena.

Trisomy is a genetic condition where there is an extra copy of a particular chromosome, resulting in 47 chromosomes instead of the typical 46 in a cell. This usually occurs due to an error in cell division during the development of the egg, sperm, or embryo.

Instead of the normal pair, there are three copies (trisomy) of that chromosome. The most common form of trisomy is Trisomy 21, also known as Down syndrome, where there is an extra copy of chromosome 21. Other forms include Trisomy 13 (Patau syndrome) and Trisomy 18 (Edwards syndrome), which are associated with more severe developmental issues and shorter lifespans.

Trisomy can also occur in a mosaic form, where some cells have the extra chromosome while others do not, leading to varying degrees of symptoms depending on the proportion of affected cells.

Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:

1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.

Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.

Human chromosome pair 18 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Chromosomes are made up of DNA, protein, and RNA, and they carry genetic information that determines an individual's physical characteristics, biochemical processes, and susceptibility to disease.

Chromosome pair 18 is one of the 23 pairs of chromosomes that make up the human genome. Each member of chromosome pair 18 has a length of about 75 million base pairs and contains around 600 genes. Chromosome pair 18 is also known as the "smart chromosome" because it contains many genes involved in brain development, function, and cognition.

Abnormalities in chromosome pair 18 can lead to genetic disorders such as Edwards syndrome (trisomy 18), in which there is an extra copy of chromosome 18, or deletion of a portion of the chromosome, leading to various developmental and cognitive impairments.

An abnormal karyotype refers to an abnormal number or structure of chromosomes in a person's cells. A karyotype is a visual representation of a person's chromosomes, arranged in pairs according to their size, shape, and banding pattern. In a normal karyotype, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

An abnormal karyotype can result from an extra chromosome (as in trisomy 21 or Down syndrome), missing chromosomes (as in monosomy X or Turner syndrome), rearrangements of chromosome parts (translocations, deletions, duplications), or mosaicism (a mixture of cells with different karyotypes).

Abnormal karyotypes can be associated with various genetic disorders, developmental abnormalities, intellectual disabilities, and increased risks for certain medical conditions. They are typically detected through a procedure called chromosome analysis or karyotyping, which involves staining and visualizing the chromosomes under a microscope.

Diploidy is a term used in genetics to describe the state of having two sets of chromosomes in each cell. In diploid organisms, one set of chromosomes is inherited from each parent, resulting in a total of 2 sets of chromosomes.

In humans, for example, most cells are diploid and contain 46 chromosomes arranged in 23 pairs. This includes 22 pairs of autosomal chromosomes and one pair of sex chromosomes (XX in females or XY in males). Diploidy is a characteristic feature of many complex organisms, including animals, plants, and fungi.

Diploid cells can undergo a process called meiosis, which results in the formation of haploid cells that contain only one set of chromosomes. These haploid cells can then combine with other haploid cells during fertilization to form a new diploid organism.

Abnormalities in diploidy can lead to genetic disorders, such as Down syndrome, which occurs when an individual has three copies of chromosome 21 instead of the typical two. This extra copy of the chromosome can result in developmental delays and intellectual disabilities.

Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.

Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.

Polyploidy is a condition in which a cell or an organism has more than two sets of chromosomes, unlike the typical diploid state where there are only two sets (one from each parent). Polyploidy can occur through various mechanisms such as errors during cell division, fusion of egg and sperm cells that have an abnormal number of chromosomes, or through the reproduction process in plants.

Polyploidy is common in the plant kingdom, where it often leads to larger size, increased biomass, and sometimes hybrid vigor. However, in animals, polyploidy is less common and usually occurs in only certain types of cells or tissues, as most animals require a specific number of chromosomes for normal development and reproduction. In humans, polyploidy is typically not compatible with life and can lead to developmental abnormalities and miscarriage.

Chromosomes are thread-like structures that contain genetic material, i.e., DNA and proteins, present in the nucleus of human cells. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each diploid cell. Twenty-two of these pairs are called autosomal chromosomes, which come in identical pairs and contain genes that determine various traits unrelated to sex.

The last pair is referred to as the sex chromosomes (X and Y), which determines a person's biological sex. Females have two X chromosomes (46, XX), while males possess one X and one Y chromosome (46, XY). Chromosomes vary in size, with the largest being chromosome 1 and the smallest being the Y chromosome.

Human chromosomes are typically visualized during mitosis or meiosis using staining techniques that highlight their banding patterns, allowing for identification of specific regions and genes. Chromosomal abnormalities can lead to various genetic disorders, including Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).

Nondisjunction is a genetic term that refers to the failure of homologous chromosomes or sister chromatids to properly separate during cell division, resulting in an abnormal number of chromosomes in the daughter cells. This can occur during either mitosis (resulting in somatic mutations) or meiosis (leading to gametes with an incorrect number of chromosomes).

In humans, nondisjunction of chromosome 21 during meiosis is the most common cause of Down syndrome, resulting in three copies of chromosome 21 (trisomy 21) in the affected individual. Nondisjunction can also result in other aneuploidies, such as Turner syndrome (X monosomy), Klinefelter syndrome (XXY), and Edwards syndrome (trisomy 18).

Nondisjunction is typically a random event, although maternal age has been identified as a risk factor for nondisjunction during meiosis. In some cases, structural chromosomal abnormalities or genetic factors may predispose an individual to nondisjunction events.

Spermatozoa are the male reproductive cells, or gametes, that are produced in the testes. They are microscopic, flagellated (tail-equipped) cells that are highly specialized for fertilization. A spermatozoon consists of a head, neck, and tail. The head contains the genetic material within the nucleus, covered by a cap-like structure called the acrosome which contains enzymes to help the sperm penetrate the female's egg (ovum). The long, thin tail propels the sperm forward through fluid, such as semen, enabling its journey towards the egg for fertilization.

Aneugens are chemical or physical agents that can cause aneuploidy, which is a condition characterized by an abnormal number of chromosomes in the cells of an organism. Aneuploidy can result from errors in cell division, such as nondisjunction, during which chromosome pairs fail to separate properly during mitosis or meiosis.

Exposure to aneugens can increase the risk of aneuploidy by interfering with the normal functioning of the mitotic spindle, the cellular structure responsible for separating chromosomes during cell division. Aneugens can cause errors in chromosome segregation by disrupting the attachment of chromosomes to the spindle or by affecting the dynamics of spindle microtubules.

Examples of aneugens include certain chemotherapeutic drugs, such as colchicine and vincristine, which are used in cancer treatment but can also cause fetal abnormalities if taken during pregnancy. Other aneugens include environmental toxins, such as pesticides and industrial chemicals, which have been linked to increased risks of birth defects and reproductive problems.

Polar bodies are small, non-functional cells that are produced during the process of female meiosis, which results in the formation of an egg cell. They are formed when cytoplasmic divisions occur without subsequent cytokinesis, resulting in the separation of a small amount of cytoplasm and organelles from the main cell.

In the first meiotic division, a primary oocyte divides into a larger secondary oocyte and a smaller polar body, which contains half the number of chromosomes as the original cell. During the second meiotic division, the secondary oocyte divides into a larger ovum (egg) and another smaller polar body, again with half the number of chromosomes.

Polar bodies are typically extruded from the main cell and eventually disintegrate or are absorbed by surrounding cells. They do not contribute to the genetic makeup of the resulting egg or any offspring that may be produced from it. The formation of polar bodies helps ensure that the egg contains the correct number of chromosomes for normal development.

Meiosis is a type of cell division that results in the formation of four daughter cells, each with half the number of chromosomes as the parent cell. It is a key process in sexual reproduction, where it generates gametes or sex cells (sperm and eggs).

The process of meiosis involves one round of DNA replication followed by two successive nuclear divisions, meiosis I and meiosis II. In meiosis I, homologous chromosomes pair, form chiasma and exchange genetic material through crossing over, then separate from each other. In meiosis II, sister chromatids separate, leading to the formation of four haploid cells. This process ensures genetic diversity in offspring by shuffling and recombining genetic information during the formation of gametes.

A chromosome is a thread-like structure that contains genetic material, made up of DNA and proteins, in the nucleus of a cell. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each cell of the body, with the exception of the sperm and egg cells which contain only 23 chromosomes.

The X chromosome is one of the two sex-determining chromosomes in humans. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The X chromosome contains hundreds of genes that are responsible for various functions in the body, including some related to sexual development and reproduction.

Humans inherit one X chromosome from their mother and either an X or a Y chromosome from their father. In females, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in each cell having only one active X chromosome. This process, known as X-inactivation, helps to ensure that females have roughly equal levels of gene expression from the X chromosome, despite having two copies.

Abnormalities in the number or structure of the X chromosome can lead to various genetic disorders, such as Turner syndrome (X0), Klinefelter syndrome (XXY), and fragile X syndrome (an X-linked disorder caused by a mutation in the FMR1 gene).

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

A centrosome is a microtubule-organizing center found in animal cells. It consists of two barrel-shaped structures called centrioles, which are surrounded by a protein matrix called the pericentriolar material. The centrosome plays a crucial role in organizing the microtubules that form the cell's cytoskeleton and help to shape the cell, as well as in separating the chromosomes during cell division.

During mitosis, the two centrioles of the centrosome separate and move to opposite poles of the cell, where they nucleate the formation of the spindle fibers that pull the chromosomes apart. The centrosome also helps to ensure that the genetic material is equally distributed between the two resulting daughter cells.

It's worth noting that while centrioles are present in many animal cells, they are not always present in all types of cells. For example, plant cells do not have centrioles or centrosomes, and instead rely on other mechanisms to organize their microtubules.

The Mad2 (Mitotic Arrest Deficient 2) proteins are a part of the spindle assembly checkpoint (SAC), which is a crucial surveillance mechanism that ensures accurate chromosome segregation during cell division. The primary function of Mad2 proteins is to prevent the onset of anaphase until all chromosomes have achieved proper attachment and tension on the mitotic spindle.

Mad2 proteins exist in two major conformational states: open (O-Mad2) and closed (C-Mad2). The transition between these two forms plays a critical role in the regulation of the SAC. In response to unattached kinetochores, Mad2 proteins bind to and inhibit the anaphase-promoting complex/cyclosome (APC/C), thereby preventing premature chromosome separation.

There are two main isoforms of Mad2 in humans: Mad2L1 (Mad2A) and Mad2L2 (Mad2B). While both isoforms share similar functions, they exhibit distinct biochemical properties and interact with other SAC components differently. Dysregulation of the Mad2 proteins has been implicated in various diseases, including cancer and neurological disorders.

A karyotype is a method used in genetics to describe the number and visual appearance of chromosomes in the nucleus of a cell. It includes the arrangement of the chromosomes by length, position of the centromeres, and banding pattern. A karyotype is often represented as a photograph or image of an individual's chromosomes, arranged in pairs from largest to smallest, that has been stained to show the bands of DNA. This information can be used to identify genetic abnormalities, such as extra or missing chromosomes, or structural changes, such as deletions, duplications, or translocations. A karyotype is typically obtained by culturing cells from a sample of blood or tissue, then arresting the cell division at metaphase and staining the chromosomes to make them visible for analysis.

Mitosis is a type of cell division in which the genetic material of a single cell, called the mother cell, is equally distributed into two identical daughter cells. It's a fundamental process that occurs in multicellular organisms for growth, maintenance, and repair, as well as in unicellular organisms for reproduction.

The process of mitosis can be broken down into several stages: prophase, prometaphase, metaphase, anaphase, and telophase. During prophase, the chromosomes condense and become visible, and the nuclear envelope breaks down. In prometaphase, the nuclear membrane is completely disassembled, and the mitotic spindle fibers attach to the chromosomes at their centromeres.

During metaphase, the chromosomes align at the metaphase plate, an imaginary line equidistant from the two spindle poles. In anaphase, sister chromatids are pulled apart by the spindle fibers and move toward opposite poles of the cell. Finally, in telophase, new nuclear envelopes form around each set of chromosomes, and the chromosomes decondense and become less visible.

Mitosis is followed by cytokinesis, a process that divides the cytoplasm of the mother cell into two separate daughter cells. The result of mitosis and cytokinesis is two genetically identical cells, each with the same number and kind of chromosomes as the original parent cell.

Human chromosome pair 13 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes carry genetic information in the form of genes, which are sequences of DNA that code for specific traits and functions. Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Chromosome pair 13 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y).

Chromosome pair 13 contains several important genes that are associated with various genetic disorders, such as cri-du-chat syndrome and Phelan-McDermid syndrome. Cri-du-chat syndrome is caused by a deletion of the short arm of chromosome 13 (13p), resulting in distinctive cat-like crying sounds in infants, developmental delays, and intellectual disabilities. Phelan-McDermid syndrome is caused by a deletion or mutation of the terminal end of the long arm of chromosome 13 (13q), leading to developmental delays, intellectual disability, absent or delayed speech, and autistic behaviors.

It's important to note that while some genetic disorders are associated with specific chromosomal abnormalities, many factors can contribute to the development and expression of these conditions, including environmental influences and interactions between multiple genes.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

Sex chromosomes, often denoted as X and Y, are one of the 23 pairs of human chromosomes found in each cell of the body. Normally, females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). The sex chromosomes play a significant role in determining the sex of an individual. They contain genes that contribute to physical differences between men and women. Any variations or abnormalities in the number or structure of these chromosomes can lead to various genetic disorders and conditions related to sexual development and reproduction.

The spindle apparatus is a microtubule-based structure that plays a crucial role in the process of cell division, specifically during mitosis and meiosis. It consists of three main components:

1. The spindle poles: These are organized structures composed of microtubules and associated proteins that serve as the anchoring points for the spindle fibers. In animal cells, these poles are typically formed by centrosomes, while in plant cells, they form around nucleation sites called microtubule-organizing centers (MTOCs).
2. The spindle fibers: These are dynamic arrays of microtubules that extend between the two spindle poles. They can be categorized into three types: kinetochore fibers, which connect to the kinetochores on chromosomes; astral fibers, which radiate from the spindle poles and help position the spindle within the cell; and interpolar fibers, which lie between the two spindle poles and contribute to their separation during anaphase.
3. Regulatory proteins: Various motor proteins, such as dynein and kinesin, as well as non-motor proteins like tubulin and septins, are involved in the assembly, maintenance, and dynamics of the spindle apparatus. These proteins help to generate forces that move chromosomes, position the spindle, and ultimately segregate genetic material between two daughter cells during cell division.

The spindle apparatus is essential for ensuring accurate chromosome separation and maintaining genomic stability during cell division. Dysfunction of the spindle apparatus can lead to various abnormalities, including aneuploidy (abnormal number of chromosomes) and chromosomal instability, which have been implicated in several diseases, such as cancer and developmental disorders.

Maternal age is a term used to describe the age of a woman at the time she becomes pregnant or gives birth. It is often used in medical and epidemiological contexts to discuss the potential risks, complications, and outcomes associated with pregnancy and childbirth at different stages of a woman's reproductive years.

Advanced maternal age typically refers to women who become pregnant or give birth at 35 years of age or older. This group faces an increased risk for certain chromosomal abnormalities, such as Down syndrome, and other pregnancy-related complications, including gestational diabetes, preeclampsia, and cesarean delivery.

On the other end of the spectrum, adolescent pregnancies (those that occur in women under 20 years old) also come with their own set of potential risks and complications, such as preterm birth, low birth weight, and anemia.

It's important to note that while maternal age can influence pregnancy outcomes, many other factors – including genetics, lifestyle choices, and access to quality healthcare – can also play a significant role in determining the health of both mother and baby during pregnancy and childbirth.

Human Y chromosomes are one of the two sex-determining chromosomes in humans (the other being the X chromosome). They are found in the 23rd pair of human chromosomes and are significantly smaller than the X chromosome.

The Y chromosome is passed down from father to son through the paternal line, and it plays a crucial role in male sex determination. The SRY gene (sex-determining region Y) on the Y chromosome initiates the development of male sexual characteristics during embryonic development.

In addition to the SRY gene, the human Y chromosome contains several other genes that are essential for sperm production and male fertility. However, the Y chromosome has a much lower gene density compared to other chromosomes, with only about 80 protein-coding genes, making it one of the most gene-poor chromosomes in the human genome.

Because of its small size and low gene density, the Y chromosome is particularly susceptible to genetic mutations and deletions, which can lead to various genetic disorders and male infertility. Nonetheless, the Y chromosome remains a critical component of human genetics and evolution, providing valuable insights into sex determination, inheritance patterns, and human diversity.

Human chromosome pair 21 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical to each other. Chromosomes are made up of DNA, which contains genetic information that determines many of an individual's traits and characteristics.

Chromosome pair 21 is one of the 23 pairs of human autosomal chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome pair 21 is the smallest of the human chromosomes, and it contains approximately 48 million base pairs of DNA. It contains around 200-300 genes that provide instructions for making proteins and regulating various cellular processes.

Down syndrome, a genetic disorder characterized by intellectual disability, developmental delays, distinct facial features, and sometimes heart defects, is caused by an extra copy of chromosome pair 21 or a part of it. This additional genetic material can lead to abnormalities in brain development and function, resulting in the characteristic symptoms of Down syndrome.

Genomic instability is a term used in genetics and molecular biology to describe a state of increased susceptibility to genetic changes or mutations in the genome. It can be defined as a condition where the integrity and stability of the genome are compromised, leading to an increased rate of DNA alterations such as point mutations, insertions, deletions, and chromosomal rearrangements.

Genomic instability is a hallmark of cancer cells and can also be observed in various other diseases, including genetic disorders and aging. It can arise due to defects in the DNA repair mechanisms, telomere maintenance, epigenetic regulation, or chromosome segregation during cell division. These defects can result from inherited genetic mutations, acquired somatic mutations, exposure to environmental mutagens, or age-related degenerative changes.

Genomic instability is a significant factor in the development and progression of cancer as it promotes the accumulation of oncogenic mutations that contribute to tumor initiation, growth, and metastasis. Therefore, understanding the mechanisms underlying genomic instability is crucial for developing effective strategies for cancer prevention, diagnosis, and treatment.

Male infertility is a condition characterized by the inability to cause pregnancy in a fertile female. It is typically defined as the failure to achieve a pregnancy after 12 months or more of regular unprotected sexual intercourse.

The causes of male infertility can be varied and include issues with sperm production, such as low sperm count or poor sperm quality, problems with sperm delivery, such as obstructions in the reproductive tract, or hormonal imbalances that affect sperm production. Other factors that may contribute to male infertility include genetic disorders, environmental exposures, lifestyle choices, and certain medical conditions or treatments.

It is important to note that male infertility can often be treated or managed with medical interventions, such as medication, surgery, or assisted reproductive technologies (ART). A healthcare provider can help diagnose the underlying cause of male infertility and recommend appropriate treatment options.

Chromosomes are thread-like structures that exist in the nucleus of cells, carrying genetic information in the form of genes. They are composed of DNA and proteins, and are typically present in pairs in the nucleus, with one set inherited from each parent. In humans, there are 23 pairs of chromosomes for a total of 46 chromosomes. Chromosomes come in different shapes and forms, including sex chromosomes (X and Y) that determine the biological sex of an individual. Changes or abnormalities in the number or structure of chromosomes can lead to genetic disorders and diseases.

XYY karyotype is a chromosomal abnormality where an individual's cells have one extra Y chromosome, resulting in a 47, XYY pattern of sex chromosomes. This condition is also known as Jacob's syndrome or XYY syndrome. Typically, human cells contain 23 pairs of chromosomes, for a total of 46 chromosomes, with one pair being the sex chromosomes (XX in females and XY in males). In an XYY karyotype, there are two Y chromosomes and one X chromosome, which can lead to developmental differences and various health concerns.

Individuals with XYY karyotype may have a higher risk of developing learning disabilities, speech and language delays, and behavioral issues such as attention deficit hyperactivity disorder (ADHD) or autism spectrum disorders. However, many people with XYY karyotype do not experience significant health problems and can lead typical lives with appropriate support and interventions.

It is important to note that an XYY karyotype does not typically affect physical characteristics, and most individuals with this condition are phenotypically male. However, they may be taller than their peers due to the influence of the extra Y chromosome on growth hormones.

Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.

Metaphase is a phase in the cell division process (mitosis or meiosis) where the chromosomes align in the middle of the cell, also known as the metaphase plate or equatorial plane. During this stage, each chromosome consists of two sister chromatids attached to each other by a protein complex called the centromere. The spindle fibers from opposite poles of the cell attach to the centromeres of each chromosome, and through a process called congression, they align the chromosomes in the middle of the cell. This alignment allows for accurate segregation of genetic material during the subsequent anaphase stage.

Klinefelter Syndrome: A genetic disorder in males, caused by the presence of one or more extra X chromosomes, typically resulting in XXY karyotype. It is characterized by small testes, infertility, gynecomastia (breast enlargement), tall stature, and often mild to moderate intellectual disability. The symptoms can vary greatly among individuals with Klinefelter Syndrome. Some men may not experience any significant health problems and may never be diagnosed, while others may have serious medical or developmental issues that require treatment. It is one of the most common chromosomal disorders, affecting about 1 in every 500-1,000 newborn males.

Cytogenetic analysis is a laboratory technique used to identify and study the structure and function of chromosomes, which are the structures in the cell that contain genetic material. This type of analysis involves examining the number, size, shape, and banding pattern of chromosomes in cells, typically during metaphase when they are at their most condensed state.

There are several methods used for cytogenetic analysis, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). Karyotyping involves staining the chromosomes with a dye to visualize their banding patterns and then arranging them in pairs based on their size and shape. FISH uses fluorescent probes to label specific DNA sequences, allowing for the detection of genetic abnormalities such as deletions, duplications, or translocations. CGH compares the DNA content of two samples to identify differences in copy number, which can be used to detect chromosomal imbalances.

Cytogenetic analysis is an important tool in medical genetics and is used for a variety of purposes, including prenatal diagnosis, cancer diagnosis and monitoring, and the identification of genetic disorders.

The Y chromosome is one of the two sex-determining chromosomes in humans and many other animals, along with the X chromosome. The Y chromosome contains the genetic information that helps to determine an individual's sex as male. It is significantly smaller than the X chromosome and contains fewer genes.

The Y chromosome is present in males, who inherit it from their father. Females, on the other hand, have two X chromosomes, one inherited from each parent. The Y chromosome includes a gene called SRY (sex-determining region Y), which initiates the development of male sexual characteristics during embryonic development.

It is worth noting that the Y chromosome has a relatively high rate of genetic mutation and degeneration compared to other chromosomes, leading to concerns about its long-term viability in human evolution. However, current evidence suggests that the Y chromosome has been stable for at least the past 25 million years.

Sex chromosome aberrations refer to structural and numerical abnormalities in the sex chromosomes, which are typically represented as X and Y chromosomes in humans. These aberrations can result in variations in the number of sex chromosomes, such as Klinefelter syndrome (47,XXY), Turner syndrome (45,X), and Jacobs/XYY syndrome (47,XYY). They can also include structural changes, such as deletions, duplications, or translocations of sex chromosome material.

Sex chromosome aberrations may lead to a range of phenotypic effects, including differences in physical characteristics, cognitive development, fertility, and susceptibility to certain health conditions. The manifestation and severity of these impacts can vary widely depending on the specific type and extent of the aberration, as well as individual genetic factors and environmental influences.

It is important to note that while sex chromosome aberrations may pose challenges and require medical management, they do not inherently define or limit a person's potential, identity, or worth. Comprehensive care, support, and education can help individuals with sex chromosome aberrations lead fulfilling lives and reach their full potential.

The term "DNA, neoplasm" is not a standard medical term or concept. DNA refers to deoxyribonucleic acid, which is the genetic material present in the cells of living organisms. A neoplasm, on the other hand, is a tumor or growth of abnormal tissue that can be benign (non-cancerous) or malignant (cancerous).

In some contexts, "DNA, neoplasm" may refer to genetic alterations found in cancer cells. These genetic changes can include mutations, amplifications, deletions, or rearrangements of DNA sequences that contribute to the development and progression of cancer. Identifying these genetic abnormalities can help doctors diagnose and treat certain types of cancer more effectively.

However, it's important to note that "DNA, neoplasm" is not a term that would typically be used in medical reports or research papers without further clarification. If you have any specific questions about DNA changes in cancer cells or neoplasms, I would recommend consulting with a healthcare professional or conducting further research on the topic.

"Primed In Situ Labeling" (PRINS) is not a widely recognized medical term, but it is a technique used in molecular biology and pathology. Here's a definition of the PRINS technique:

Primed In Situ Labeling (PRINS) is a cytogenetic method that allows for the detection and visualization of specific DNA sequences within chromosomes or interphase nuclei through fluorescence in situ hybridization (FISH). The technique involves denaturing double-stranded DNA in fixed cells, followed by annealing a primer to a specific target sequence. A DNA polymerase then extends the primer, incorporating labeled nucleotides that can be visualized under a fluorescence microscope.

The PRINS technique offers several advantages over traditional FISH methods, including higher sensitivity and specificity, lower background signal, and the ability to analyze multiple targets simultaneously using different colored probes. It is commonly used in the diagnosis and monitoring of various genetic disorders, cancer, and infectious diseases.

Cytogenetics is a branch of genetics that deals with the study of chromosomes and their structure, function, and abnormalities. It involves the examination of chromosome number and structure in the cells of an organism, usually through microscopic analysis of chromosomes prepared from cell cultures or tissue samples. Cytogenetic techniques can be used to identify chromosomal abnormalities associated with genetic disorders, cancer, and other diseases.

The process of cytogenetics typically involves staining the chromosomes to make them visible under a microscope, and then analyzing their number, size, shape, and banding pattern. Chromosomal abnormalities such as deletions, duplications, inversions, translocations, and aneuploidy (abnormal number of chromosomes) can be detected through cytogenetic analysis.

Cytogenetics is an important tool in medical genetics and has many clinical applications, including prenatal diagnosis, cancer diagnosis and monitoring, and identification of genetic disorders. Advances in molecular cytogenetic techniques, such as fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH), have improved the resolution and accuracy of chromosome analysis and expanded its clinical applications.

Aurora kinases are a family of serine/threonine protein kinases that play crucial roles in the regulation of cell division. There are three members of the Aurora kinase family, designated as Aurora A, Aurora B, and Aurora C. These kinases are involved in the proper separation of chromosomes during mitosis and meiosis, and their dysregulation has been implicated in various types of cancer.

Aurora A is primarily located at the centrosomes and spindle poles during cell division, where it regulates centrosome maturation, bipolar spindle formation, and chromosome segregation. Aurora B, on the other hand, is a component of the chromosomal passenger complex (CPC) that localizes to the centromeres during prophase and moves to the spindle midzone during anaphase. It plays essential roles in kinetochore-microtubule attachment, chromosome alignment, and cytokinesis. Aurora C is most similar to Aurora B and appears to have overlapping functions with it, although its specific roles are less well understood.

Dysregulation of Aurora kinases has been associated with various types of cancer, including breast, ovarian, colon, and lung cancers. Overexpression or amplification of Aurora A is observed in many cancers, leading to chromosomal instability and aneuploidy. Inhibition of Aurora kinases has emerged as a potential therapeutic strategy for cancer treatment, with several small molecule inhibitors currently under investigation in clinical trials.

Oligospermia is a medical term used to describe a condition in which the semen contains a lower than normal number of sperm. Generally, a sperm count of less than 15 million sperm per milliliter (ml) of semen is considered to be below the normal range.

Oligospermia can make it more difficult for a couple to conceive naturally and may require medical intervention such as intracytoplasmic sperm injection (ICSI) or in vitro fertilization (IVF). The condition can result from various factors, including hormonal imbalances, genetic abnormalities, varicocele, environmental factors, and certain medications.

It's important to note that oligospermia is not the same as azoospermia, which is a condition where there is no sperm present in the semen at all.

Spectral karyotyping (SKY) is a molecular cytogenetic technique used to analyze the chromosomal composition and structure of cells. It involves the use of fluorescent probes that bind specifically to each chromosome pair, with each probe labeled with a different color. This allows for the visualization of individual chromosomes in multiple colors throughout the genome, creating a "spectrum" of colors for each chromosome pair.

The technique is particularly useful in identifying complex chromosomal rearrangements, such as translocations, deletions, and duplications, that may be associated with various genetic disorders or cancer. By comparing the spectral karyotype of a patient's cells to a normal reference karyotype, researchers and clinicians can identify abnormalities and gain insights into the underlying genetic causes of diseases.

Overall, spectral karyotyping is an important tool in the field of genetics and genomics, providing a powerful means of visualizing and analyzing chromosomal structure and composition at the molecular level.

Maternal Serum Screening (MSS) tests are a type of prenatal screening tests that measure the levels of certain substances in the mother's blood during pregnancy to assess the risk of birth defects or chromosomal abnormalities in the fetus. These tests typically measure the levels of two proteins, human chorionic gonadotropin (hCG) and alpha-fetoprotein (AFP), as well as a hormone called inhibin A.

The levels of these substances can vary depending on factors such as the gestational age of the fetus, the mother's weight, and the presence of certain medical conditions. By comparing the measured levels to established norms, healthcare providers can estimate the risk of chromosomal abnormalities such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and neural tube defects like spina bifida.

It is important to note that MSS tests do not provide a definitive diagnosis but rather an estimate of the risk. If the results suggest an increased risk, further diagnostic testing such as amniocentesis or chorionic villus sampling (CVS) may be recommended to confirm the diagnosis.

Intracytoplasmic Sperm Injection (ICSI) is a specialized form of assisted reproductive technology (ART), specifically used in the context of in vitro fertilization (IVF). It involves the direct injection of a single sperm into the cytoplasm of a mature egg (oocyte) to facilitate fertilization. This technique is often used when there are issues with male infertility, such as low sperm count or poor sperm motility, to increase the chances of successful fertilization. The resulting embryos can then be transferred to the uterus in hopes of achieving a pregnancy.

M Phase cell cycle checkpoints are control mechanisms that ensure the proper completion of the M phase (mitosis or meiosis) of the cell cycle. These checkpoints verify that certain conditions are met before the cell proceeds to the next phase of the cell cycle, thus helping to maintain genomic stability and prevent errors such as chromosomal mutations or aneuploidy.

There are two main M Phase cell cycle checkpoints:

1. The G2/M Checkpoint: This checkpoint is activated at the end of the G2 phase and verifies that all DNA has been replicated accurately, and that there are no DNA damages or other issues that could interfere with mitosis. If any problems are detected, the cell cycle is halted until they can be resolved.
2. The Mitotic Spindle Checkpoint: This checkpoint ensures that all chromosomes have attached properly to the spindle apparatus and that they will be equally distributed to the two resulting daughter cells during mitosis. If any chromosomes are not properly attached or if there is an issue with the spindle apparatus, the cell cycle is paused until these problems are corrected.

These checkpoints play a crucial role in maintaining genomic stability and preventing the development of cancer and other diseases.

An oocyte, also known as an egg cell or female gamete, is a large specialized cell found in the ovary of female organisms. It contains half the number of chromosomes as a normal diploid cell, as it is the product of meiotic division. Oocytes are surrounded by follicle cells and are responsible for the production of female offspring upon fertilization with sperm. The term "oocyte" specifically refers to the immature egg cell before it reaches full maturity and is ready for fertilization, at which point it is referred to as an ovum or egg.

Prenatal ultrasonography, also known as obstetric ultrasound, is a medical diagnostic procedure that uses high-frequency sound waves to create images of the developing fetus, placenta, and amniotic fluid inside the uterus. It is a non-invasive and painless test that is widely used during pregnancy to monitor the growth and development of the fetus, detect any potential abnormalities or complications, and determine the due date.

During the procedure, a transducer (a small handheld device) is placed on the mother's abdomen and moved around to capture images from different angles. The sound waves travel through the mother's body and bounce back off the fetus, producing echoes that are then converted into electrical signals and displayed as images on a screen.

Prenatal ultrasonography can be performed at various stages of pregnancy, including early pregnancy to confirm the pregnancy and detect the number of fetuses, mid-pregnancy to assess the growth and development of the fetus, and late pregnancy to evaluate the position of the fetus and determine if it is head down or breech. It can also be used to guide invasive procedures such as amniocentesis or chorionic villus sampling.

Overall, prenatal ultrasonography is a valuable tool in modern obstetrics that helps ensure the health and well-being of both the mother and the developing fetus.

Aurora Kinase A is a type of serine/threonine kinase that plays a crucial role in the regulation of cell division and mitosis. It is encoded by the AURKA gene in humans. This enzyme is responsible for proper chromosome alignment and segregation during mitosis, and its dysregulation has been implicated in various types of cancer. Aurora Kinase A is often overexpressed in cancer cells, leading to chromosomal instability and aneuploidy, which contribute to tumor growth and progression. Inhibitors of Aurora Kinase A are being investigated as potential cancer therapeutics.

The first trimester of pregnancy is defined as the period of gestational development that extends from conception (fertilization of the egg by sperm) to the end of the 13th week. This critical phase marks significant transformations in both the mother's body and the growing embryo/fetus.

During the first trimester, the fertilized egg implants into the uterine lining (implantation), initiating a series of complex interactions leading to the formation of the placenta - an organ essential for providing nutrients and oxygen to the developing fetus while removing waste products. Simultaneously, the embryo undergoes rapid cell division and differentiation, giving rise to various organs and systems. By the end of the first trimester, most major structures are present, although they continue to mature and grow throughout pregnancy.

The mother may experience several physiological changes during this time, including:
- Morning sickness (nausea and vomiting)
- Fatigue
- Breast tenderness
- Frequent urination
- Food aversions or cravings
- Mood swings

Additionally, hormonal shifts can cause various symptoms and prepare the body for potential changes in lactation, posture, and pelvic alignment as pregnancy progresses. Regular prenatal care is crucial during this period to monitor both maternal and fetal wellbeing, identify any potential complications early on, and provide appropriate guidance and support throughout the pregnancy.

Spontaneous abortion, also known as miscarriage, is the unintentional expulsion of a nonviable fetus from the uterus before the 20th week of gestation. It is a common complication of early pregnancy, with most miscarriages occurring during the first trimester. Spontaneous abortion can have various causes, including chromosomal abnormalities, maternal health conditions, infections, hormonal imbalances, and structural issues of the uterus or cervix. In many cases, the exact cause may remain unknown.

The symptoms of spontaneous abortion can vary but often include vaginal bleeding, which may range from light spotting to heavy bleeding; abdominal pain or cramping; and the passing of tissue or clots from the vagina. While some miscarriages occur suddenly and are immediately noticeable, others may progress slowly over several days or even weeks.

In medical practice, healthcare providers often use specific terminology to describe different stages and types of spontaneous abortion. For example:

* Threatened abortion: Vaginal bleeding during early pregnancy, but the cervix remains closed, and there is no evidence of fetal demise or passing of tissue.
* Inevitable abortion: Vaginal bleeding with an open cervix, indicating that a miscarriage is imminent or already in progress.
* Incomplete abortion: The expulsion of some but not all products of conception from the uterus, requiring medical intervention to remove any remaining tissue.
* Complete abortion: The successful passage of all products of conception from the uterus, often confirmed through an ultrasound or pelvic examination.
* Missed abortion: The death of a fetus in the uterus without any expulsion of the products of conception, which may be discovered during routine prenatal care.
* Septic abortion: A rare and life-threatening complication of spontaneous abortion characterized by infection of the products of conception and the surrounding tissues, requiring prompt medical attention and antibiotic treatment.

Healthcare providers typically monitor patients who experience a spontaneous abortion to ensure that all products of conception have been expelled and that there are no complications, such as infection or excessive bleeding. In some cases, medication or surgical intervention may be necessary to remove any remaining tissue or address other issues related to the miscarriage. Counseling and support services are often available for individuals and couples who experience a spontaneous abortion, as they may face emotional challenges and concerns about future pregnancies.

Fetal diseases are medical conditions or abnormalities that affect a fetus during pregnancy. These diseases can be caused by genetic factors, environmental influences, or a combination of both. They can range from mild to severe and may impact various organ systems in the developing fetus. Examples of fetal diseases include congenital heart defects, neural tube defects, chromosomal abnormalities such as Down syndrome, and infectious diseases such as toxoplasmosis or rubella. Fetal diseases can be diagnosed through prenatal testing, including ultrasound, amniocentesis, and chorionic villus sampling. Treatment options may include medication, surgery, or delivery of the fetus, depending on the nature and severity of the disease.

Chromatids are defined as the individual strands that make up a duplicated chromosome. They are formed during the S phase of the cell cycle, when replication occurs and each chromosome is copied, resulting in two identical sister chromatids. These chromatids are connected at a region called the centromere and are held together by cohesin protein complexes until they are separated during mitosis or meiosis.

During mitosis, the sister chromatids are pulled apart by the mitotic spindle apparatus and distributed equally to each daughter cell. In meiosis, which is a type of cell division that occurs in the production of gametes (sex cells), homologous chromosomes pair up and exchange genetic material through a process called crossing over. After crossing over, each homologous chromosome consists of two recombinant chromatids that are separated during meiosis I, and then sister chromatids are separated during meiosis II.

Chromatids play an essential role in the faithful transmission of genetic information from one generation to the next, ensuring that each daughter cell or gamete receives a complete set of chromosomes with intact and functional genes.

Amniocentesis is a medical procedure in which a small amount of amniotic fluid, which contains fetal cells, is withdrawn from the uterus through a hollow needle inserted into the abdomen of a pregnant woman. This procedure is typically performed between the 16th and 20th weeks of pregnancy.

The main purpose of amniocentesis is to diagnose genetic disorders and chromosomal abnormalities in the developing fetus, such as Down syndrome, Edwards syndrome, and neural tube defects. The fetal cells obtained from the amniotic fluid can be cultured and analyzed for various genetic characteristics, including chromosomal structure and number, as well as specific gene mutations.

Amniocentesis carries a small risk of complications, such as miscarriage, infection, or injury to the fetus. Therefore, it is generally offered to women who have an increased risk of having a baby with a genetic disorder or chromosomal abnormality, such as those over the age of 35, those with a family history of genetic disorders, or those who have had a previous pregnancy affected by a genetic condition.

It's important to note that while amniocentesis can provide valuable information about the health of the fetus, it does not guarantee a completely normal baby, and there are some risks associated with the procedure. Therefore, the decision to undergo amniocentesis should be made carefully, in consultation with a healthcare provider, taking into account the individual circumstances and preferences of each woman.

P-Fluorophenylalanine (p-FPA) is not a medical term, but a chemical compound used in research and medical fields. It's a type of amino acid that is used as a building block for proteins, similar to the naturally occurring amino acid phenylalanine. However, p-FPA has a fluorine atom attached to its para position (one of the possible positions on the phenyl ring).

This compound can be used in various research applications, including the study of protein synthesis and enzyme function. It's also been explored as a potential therapeutic agent for certain medical conditions, such as cancer and neurological disorders. However, more research is needed to establish its safety and efficacy for these uses.

Kinetochores are specialized protein structures that form on the centromere region of a chromosome. They play a crucial role in the process of cell division, specifically during mitosis and meiosis. The primary function of kinetochores is to connect the chromosomes to the microtubules of the spindle apparatus, which is responsible for separating the sister chromatids during cell division. Through this connection, kinetochores facilitate the movement of chromosomes towards opposite poles of the cell during anaphase, ensuring equal distribution of genetic material to each resulting daughter cell.

Image cytometry is a technique that combines imaging and cytometry to analyze individual cells within a population. It involves capturing digital images of cells, followed by the extraction and analysis of quantitative data from those images. This can include measurements of cell size, shape, and fluorescence intensity, which can be used to identify and characterize specific cell types or functional states. Image cytometry has applications in basic research, diagnostics, and drug development, particularly in the fields of oncology and immunology.

The term "image cytometry" is often used interchangeably with "cellular imaging," although some sources distinguish between the two based on the level of automation and quantitative analysis involved. In general, image cytometry involves more automated and standardized methods for acquiring and analyzing large numbers of cell images, while cellular imaging may involve more manual or qualitative assessment of individual cells.

Flow cytometry is a medical and research technique used to measure physical and chemical characteristics of cells or particles, one cell at a time, as they flow in a fluid stream through a beam of light. The properties measured include:

* Cell size (light scatter)
* Cell internal complexity (granularity, also light scatter)
* Presence or absence of specific proteins or other molecules on the cell surface or inside the cell (using fluorescent antibodies or other fluorescent probes)

The technique is widely used in cell counting, cell sorting, protein engineering, biomarker discovery and monitoring disease progression, particularly in hematology, immunology, and cancer research.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

Neoplastic cell transformation is a process in which a normal cell undergoes genetic alterations that cause it to become cancerous or malignant. This process involves changes in the cell's DNA that result in uncontrolled cell growth and division, loss of contact inhibition, and the ability to invade surrounding tissues and metastasize (spread) to other parts of the body.

Neoplastic transformation can occur as a result of various factors, including genetic mutations, exposure to carcinogens, viral infections, chronic inflammation, and aging. These changes can lead to the activation of oncogenes or the inactivation of tumor suppressor genes, which regulate cell growth and division.

The transformation of normal cells into cancerous cells is a complex and multi-step process that involves multiple genetic and epigenetic alterations. It is characterized by several hallmarks, including sustained proliferative signaling, evasion of growth suppressors, resistance to cell death, enabling replicative immortality, induction of angiogenesis, activation of invasion and metastasis, reprogramming of energy metabolism, and evading immune destruction.

Neoplastic cell transformation is a fundamental concept in cancer biology and is critical for understanding the molecular mechanisms underlying cancer development and progression. It also has important implications for cancer diagnosis, prognosis, and treatment, as identifying the specific genetic alterations that underlie neoplastic transformation can help guide targeted therapies and personalized medicine approaches.

Cell cycle proteins are a group of regulatory proteins that control the progression of the cell cycle, which is the series of events that take place in a eukaryotic cell leading to its division and duplication. These proteins can be classified into several categories based on their functions during different stages of the cell cycle.

The major groups of cell cycle proteins include:

1. Cyclin-dependent kinases (CDKs): CDKs are serine/threonine protein kinases that regulate key transitions in the cell cycle. They require binding to a regulatory subunit called cyclin to become active. Different CDK-cyclin complexes are activated at different stages of the cell cycle.
2. Cyclins: Cyclins are a family of regulatory proteins that bind and activate CDKs. Their levels fluctuate throughout the cell cycle, with specific cyclins expressed during particular phases. For example, cyclin D is important for the G1 to S phase transition, while cyclin B is required for the G2 to M phase transition.
3. CDK inhibitors (CKIs): CKIs are regulatory proteins that bind to and inhibit CDKs, thereby preventing their activation. CKIs can be divided into two main families: the INK4 family and the Cip/Kip family. INK4 family members specifically inhibit CDK4 and CDK6, while Cip/Kip family members inhibit a broader range of CDKs.
4. Anaphase-promoting complex/cyclosome (APC/C): APC/C is an E3 ubiquitin ligase that targets specific proteins for degradation by the 26S proteasome. During the cell cycle, APC/C regulates the metaphase to anaphase transition and the exit from mitosis by targeting securin and cyclin B for degradation.
5. Other regulatory proteins: Several other proteins play crucial roles in regulating the cell cycle, such as p53, a transcription factor that responds to DNA damage and arrests the cell cycle, and the polo-like kinases (PLKs), which are involved in various aspects of mitosis.

Overall, cell cycle proteins work together to ensure the proper progression of the cell cycle, maintain genomic stability, and prevent uncontrolled cell growth, which can lead to cancer.

Tetrasomy is a rare chromosomal abnormality in which there are four instead of the typical two copies of a particular chromosome in an individual's cells. This condition arises due to an error during cell division, leading to an extra copy of the chromosome being replicated and distributed to the resulting cells.

Tetrasomy can occur for any chromosome, but it is most commonly seen for chromosomes 12, 18, and 21, resulting in conditions such as tetrasomy 12p (Pallister-Killian syndrome), tetrasomy 18p (Edwards syndrome), and tetrasomy 21 (a variant of Down syndrome).

Individuals with tetrasomy often experience developmental delays, intellectual disabilities, physical abnormalities, and various health issues depending on the chromosome involved. The severity of symptoms can vary widely between individuals, ranging from mild to severe.

Comparative genomic hybridization (CGH) is a molecular cytogenetic technique used to detect and measure changes in the DNA content of an individual's genome. It is a type of microarray-based analysis that compares the DNA of two samples, typically a test sample and a reference sample, to identify copy number variations (CNVs), including gains or losses of genetic material.

In CGH, the DNA from both samples is labeled with different fluorescent dyes, typically one sample with a green fluorophore and the other with a red fluorophore. The labeled DNAs are then co-hybridized to a microarray, which contains thousands of DNA probes representing specific genomic regions. The intensity of each spot on the array reflects the amount of DNA from each sample that has hybridized to the probe.

By comparing the ratio of green to red fluorescence intensities for each probe, CGH can detect gains or losses of genetic material in the test sample relative to the reference sample. A ratio of 1 indicates no difference in copy number between the two samples, while a ratio greater than 1 suggests a gain of genetic material, and a ratio less than 1 suggests a loss.

CGH is a powerful tool for detecting genomic imbalances associated with various genetic disorders, including cancer, developmental delay, intellectual disability, and congenital abnormalities. It can also be used to study the genomics of organisms in evolutionary biology and ecological studies.

Nuchal translucency measurement (NT) is a prenatal ultrasound assessment used to screen for chromosomal abnormalities, particularly Down syndrome (Trisomy 21), and other fetal abnormalities. The nuchal translucency refers to the sonolucent space or fluid-filled area at the back of the neck of a developing fetus. During the first trimester of pregnancy, an increased nuchal translucency measurement may indicate an increased risk for certain genetic disorders and structural defects.

The procedure involves measuring the thickness of this fluid-filled space using ultrasound imaging, typically between 11 and 14 weeks of gestation. A larger nuchal translucency measurement (usually greater than 3 mm) may suggest an increased risk for chromosomal abnormalities or structural issues in the fetus. The NT measurement is often combined with maternal age, biochemical markers (such as PAPP-A and free beta-hCG), and sometimes first-trimester fetal heart rate assessment to calculate the overall risk of chromosomal abnormalities in the fetus.

It's important to note that while an increased nuchal translucency measurement can indicate a higher risk for genetic disorders, it does not confirm their presence. Further diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis, may be recommended to obtain a definitive diagnosis.

Sex chromosome disorders are genetic conditions that occur due to an atypical number or structure of the sex chromosomes, which are X and Y. Normally, females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). However, in sex chromosome disorders, there is a variation in the number or composition of these chromosomes.

The most common sex chromosome disorders include:

1. Turner syndrome (Monosomy X): Occurs when a female has only one X chromosome (45,X). This condition affects about 1 in every 2,500 female births and can lead to short stature, infertility, heart defects, and learning disabilities.
2. Klinefelter syndrome (XXY): Occurs when a male has an extra X chromosome (47,XXY). This condition affects about 1 in every 500-1,000 male births and can lead to tall stature, infertility, breast development, and learning disabilities.
3. Jacobs syndrome (XYY): Occurs when a male has an extra Y chromosome (47,XYY). This condition affects about 1 in every 1,000 male births and can lead to tall stature, learning disabilities, and behavioral issues.
4. Triple X syndrome (XXX): Occurs when a female has an extra X chromosome (47,XXX). This condition affects about 1 in every 1,000 female births and can lead to mild developmental delays and learning disabilities.
5. Other rare sex chromosome disorders: These include conditions like 48,XXXX, 49,XXXXY, and mosaicism (a mixture of cells with different chromosome compositions).

Sex chromosome disorders can have varying degrees of impact on an individual's physical and cognitive development. While some individuals may experience significant challenges, others may have only mild or no symptoms at all. Early diagnosis and appropriate interventions can help improve outcomes for those affected by sex chromosome disorders.

Blastomeres are early stage embryonic cells that result from the initial rounds of cell division in a fertilized egg, also known as a zygote. These cells are typically smaller and have a more simple organization compared to more mature cells. They are important for the normal development of the embryo and contribute to the formation of the blastocyst, which is an early stage embryonic structure that will eventually give rise to the fetus. The process of cell division that produces blastomeres is called cleavage.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Haploidy is a term used in genetics to describe the condition of having half the normal number of chromosomes in a cell or an organism. In humans, for example, a haploid cell contains 23 chromosomes, whereas a diploid cell has 46 chromosomes.

Haploid cells are typically produced through a process called meiosis, which is a type of cell division that occurs in the reproductive organs of sexually reproducing organisms. During meiosis, a diploid cell undergoes two rounds of division to produce four haploid cells, each containing only one set of chromosomes.

In humans, haploid cells are found in the sperm and egg cells, which fuse together during fertilization to create a diploid zygote with 46 chromosomes. Haploidy is important for maintaining the correct number of chromosomes in future generations and preventing genetic abnormalities that can result from having too many or too few chromosomes.

Human chromosome pair 12 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes in each cell. Chromosome pair 12 is the 12th pair of autosomal chromosomes, meaning they are not sex chromosomes (X or Y).

Chromosome 12 is a medium-sized chromosome and contains an estimated 130 million base pairs of DNA. It contains around 1,200 genes that provide instructions for making proteins and regulating various cellular processes. Some of the genes located on chromosome 12 include those involved in metabolism, development, and response to environmental stimuli.

Abnormalities in chromosome 12 can lead to genetic disorders, such as partial trisomy 12q, which is characterized by an extra copy of the long arm of chromosome 12, and Jacobsen syndrome, which is caused by a deletion of the distal end of the long arm of chromosome 12.

A centromere is a specialized region found on chromosomes that plays a crucial role in the separation of replicated chromosomes during cell division. It is the point where the sister chromatids (the two copies of a chromosome formed during DNA replication) are joined together. The centromere contains highly repeated DNA sequences and proteins that form a complex structure known as the kinetochore, which serves as an attachment site for microtubules of the mitotic spindle during cell division.

During mitosis or meiosis, the kinetochore facilitates the movement of chromosomes by interacting with the microtubules, allowing for the accurate distribution of genetic material to the daughter cells. Centromeres can vary in their position and structure among different species, ranging from being located near the middle of the chromosome (metacentric) to being positioned closer to one end (acrocentric). The precise location and characteristics of centromeres are essential for proper chromosome segregation and maintenance of genomic stability.

Demecolcine is a medication that belongs to the class of drugs called anticholinergics. It is derived from the plant alkaloid colchicine and has been used in medical research for its ability to arrest cells in metaphase, a specific stage of cell division. This property makes demecolcine useful in various laboratory procedures such as chromosome analysis and the production of cultured cell lines.

In clinical settings, demecolcine is not commonly used due to its narrow therapeutic index and potential for toxicity. However, it has been used off-label in some cases to treat conditions associated with uncontrolled cell division, such as certain types of cancer. Its use in these situations is typically reserved for when other treatments have failed or are not well tolerated.

It's important to note that demecolcine should only be administered under the close supervision of a healthcare professional and its use is generally avoided in pregnant women due to the risk of fetal harm.

Neoplasms are abnormal growths of cells or tissues in the body that serve no physiological function. They can be benign (non-cancerous) or malignant (cancerous). Benign neoplasms are typically slow growing and do not spread to other parts of the body, while malignant neoplasms are aggressive, invasive, and can metastasize to distant sites.

Neoplasms occur when there is a dysregulation in the normal process of cell division and differentiation, leading to uncontrolled growth and accumulation of cells. This can result from genetic mutations or other factors such as viral infections, environmental exposures, or hormonal imbalances.

Neoplasms can develop in any organ or tissue of the body and can cause various symptoms depending on their size, location, and type. Treatment options for neoplasms include surgery, radiation therapy, chemotherapy, immunotherapy, and targeted therapy, among others.

Autosomal aneuploidy is more dangerous than sex chromosome aneuploidy, as autosomal aneuploidy is almost always lethal to ... However, mitotic aneuploidy may be more common than previously recognized in somatic tissues, and aneuploidy is a ... Aneuploidy Testing Aneuploidy FAQ Genetics of Aneuploids (CS1: long volume value, Articles with short description, Short ... Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes ...
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 ... Wang, Jin-Chen C. (2005-01-01). "Autosomal Aneuploidy". In Gersen, Steven L.; MEd, Martha B. Keagle (eds.). The Principles of ...
Aneuploidy is a chromosome mutation in which the number of chromosomes is abnormal and differs from the usual 46 chromosomes. ... Griffiths A. "Aneuploidy". An Introduction to Genetic Analysis (7th ed.). National Center for Biotechnology Information. ... Certain genetic aberrations can be detected through this process, including Down syndrome and other aneuploidies. In many ... genetic testing tests IVF embryos before pregnancy and Preimplantation genetic screening screens non-IVF embryos for aneuploidy ...
... mutant has aneuploidy tolerance. "SRC1 - SGD". www.yeastgenome.org. v t e (Orphaned articles from November 2021, All orphaned ...
Amon's aneuploidy research has potential applications to cancer research. She found that aneuploidy can interfere with a cell's ... Williams, Bret R.; Amon, Angelika (2009). "Aneuploidy -Cancer's Fatal Flaw?". Cancer Research. 69 (2389): 5289-91. doi:10.1158/ ... growth and physiology and demonstrated that mammalian aneuploidy results in a stress response analogous to yeast aneuploidy. ... and effects of aneuploidy on normal physiology and tumorigenesis. As a student under Nasmyth, Amon made significant discoveries ...
Ben-David, Uri; Amon, Angelika (January 2020). "Context is everything: aneuploidy in cancer". Nature Reviews. Genetics. 21 (1 ... Ganem, Neil J; Storchova, Zuzana; Pellman, David (2007-04-01). "Tetraploidy, aneuploidy and cancer". Current Opinion in ...
In vitro knockdown of Bub1 in p53 impaired cells (e.g. HeLa cells) caused aneuploidy. Whether aneuploidy alone is a sufficient ... Loss-of-function mutations or absence of Bub1 has been reported to result in aneuploidy, chromosomal instability (CIN) and ... Depletion of Bub1 results in increased CIMD in order to avoid aneuploidy caused by reduced SAC functioning. The transcriptional ... More precisely, mutations in the spindle checkpoint can lead to chromosomal instability and aneuploidy, a feature present in ...
Aneuploidy is more common. Polyploidy occurs in humans in the form of triploidy, with 69 chromosomes (sometimes called 69, XXX ... ", "good", and "fold"). Aneuploidy refers to a numerical change in part of the chromosome set, whereas polyploidy refers to a ...
In fact, aneuploidy is the most common characteristic of human solid tumors and thus the spindle assembly checkpoint might be ... Due to the fact that alterations in mitotic regulatory proteins can lead to aneuploidy and this is a frequent event in cancer, ... ISBN 978-0-8153-4432-2. Kops GJ, Weaver BA, Cleveland DW (October 2005). "On the road to cancer: aneuploidy and the mitotic ... Examples include: In cancer cells, aneuploidy is a frequent event, indicating that these cells present a defect in the ...
Increased aneuploidy of spermatozoa often occurs in association with increased DNA damage. DNA fragmentation and increased in ... 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". ... Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001). "Cigarette smoking and aneuploidy in human sperm". Molecular ...
Aneuploidy may be a cause of a random spontaneous as well as recurrent pregnancy loss. Aneuploidy is more common with advanced ... Angell RR (July 1994). "Aneuploidy in older women. Higher rates of aneuploidy in oocytes from older women". Human Reproduction ... MacLennan M, Crichton JH, Playfoot CJ, Adams IR (September 2015). "Oocyte development, meiosis and aneuploidy". Seminars in ...
Prenatal screening for aneuploidy". The New England Journal of Medicine. 360 (24): 2556-62. doi:10.1056/NEJMcp0900134. PMID ... Apart from sex chromosome disorders, most cases of aneuploidy result in death of the developing fetus (miscarriage); the most ...
Through the use of chromosome engineering, he has constructed cancer cells with different degrees of aneuploidy, and he has ... At MIT, Sheltzer performed his PhD research with Angelika Amon on the consequences of aneuploidy. Sheltzer then established his ... Seton-Rogers, Sarah (March 2017). "Fitness penalties of aneuploidy". Nature Reviews Cancer. 17 (3): 142-143. doi:10.1038/nrc. ... Sheltzer uses CRISPR/Cas9 technology to study aneuploidy and cancer genomics. ...
Aneuploidy, a condition in which nondisjunction gives rise to gametes with an abnormal number of chromosomes, is one of the ... The underlying cause of aneuploidy remains highly debated; however, entosis is shown to perturb cytokinesis (cytoplasmic ... aneuploidy by invasion". Nature Cell Biology. 13 (3): 199-201. doi:10.1038/ncb0311-199. PMID 21364569. S2CID 13198876. ...
GLB1 Mosaic variegated aneuploidy syndrome; 257300; BUB1B Mowat-Wilson syndrome; 235730; ZEB2 Muckle-Wells syndrome; 191900; ...
Demaliaj, Eliona; Cerekja, Albana; Piazze, Juan (16 May 2012). "Sex Chromosome Aneuploidies". Aneuploidy in Health and Disease ... In sex chromosome aneuploidies as a whole, epilepsy is usually mild and amenable to treatment, and reports of epilepsy in ... Chromosome aneuploidies such as pentasomy X are diagnosed through the process of karyotyping, or chromosome testing. Diagnosis ... More common aneuploidy syndromes, such as Down syndrome and Klinefelter's syndrome, have strong relationships with maternal age ...
Strains of S. cerevisiae that tolerate aneuploidy can stabilize products of broken chromosomes during proliferation, which can ... "Identification of Aneuploidy-Tolerating Mutations". Cell. 143 (1): 71-83. doi:10.1016/j.cell.2010.08.038. ISSN 0092-8674. PMC ... cerevisiae due to its known ability to tolerate aneuploidy, an abnormal number of chromosomes. ...
Cysts confers a 1% risk of fetal aneuploidy. The risk of aneuploidy increases to 10.5-12% if other risk factors or ultrasound ... Peleg D, Yankowitz J (July 1998). "Choroid plexus cysts and aneuploidy". Journal of Medical Genetics. 35 (7): 554-7. doi: ... and whether the cysts are found on both sides or not do not affect the risk of aneuploidy. 44-50% of Edwards syndrome (trisomy ...
Aneuploidy Robinson WP (May 2000). "Mechanisms leading to uniparental disomy and their clinical consequences". BioEssays. 22 (5 ...
Ma, Jun-Yu; Li, Sen; Chen, Lei-Ning; Schatten, Heide; Ou, Xiang-Hong; Sun, Qing-Yuan (2020-11-20). "Why is oocyte aneuploidy ... If this does not occur it can result in nondisjunction and aneuploidy. There are several factors that contribute towards failed ... Webster, Alexandre; Schuh, Melina (January 2017). "Mechanisms of Aneuploidy in Human Eggs". Trends in Cell Biology. 27 (1): 55- ... The principal oocyte abnormality associated with increased maternal age is aneuploidy, in which chromosome segregation errors ...
Hall H, Hunt P, Hassold T. (2006). Meiosis and sex chromosome aneuploidy: how meiotic errors cause aneuploidy; how aneuploidy ... 2018). Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal ... 2018). Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and ... Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population. Public Library of Science (Plos ONE), 11(8), 1 ...
Sex chromosome aneuploidies are the most frequent form of aneuploidy in humans. Though a 48-chromosome complement involving the ... Aneuploidy is the presence of too many or too few chromosomes in a cell. In the context of sex chromosome disorders ... Sex chromosome aneuploidies are caused by nondisjunction, a process through which gametes (eggs or sperm) with too many or too ... Sex chromosome aneuploidies can only be diagnosed via conclusive genetic testing, not on the basis of clinical examination, due ...
Aneuploidy is the presence of too many or too few chromosomes in a cell. Male phenotypes, innate or induced, with forms of X ... Chromosome aneuploidies such as tetrasomy X are diagnosed via karyotype, the process in which chromosomes are tested from blood ... In common aneuploidies such as Down syndrome, the relationship with maternal age is extensively studied. In Klinefelter ... Some cases of tetrasomy X have been described as having "a false air of trisomy 21" (the underlying chromosomal aneuploidy in ...
As a result, homologous chromosomes may align independently on the meiotic spindle, risking aneuploidy that represents a key ... Jones, Keith T.; Lane, Simon I. R. (September 2013). "Molecular causes of aneuploidy in mammalian eggs". Development. 140 (18 ... meiosis and aneuploidy". Seminars in Cell & Developmental Biology. 45: 68-76. doi:10.1016/j.semcdb.2015.10.005. ISSN 1096-3634 ... and is currently regarded as the largest risk factor underlying instances of aneuploidy in human populations. The mechanisms by ...
"Breakthrough Prizes Recognize Aneuploidy Researcher, Biochemist". The Scientist Magazine. 18 October 2018. Retrieved 20 October ...
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- ...
Every polysomy is a type of aneuploidy. position effect Any effect on the expression or functionality of a gene or sequence ... It is a type of aneuploidy. Morpholino A synthetic polymeric molecule connecting short sequences of nucleobases into artificial ...
Aneuploidy is the presence of too many or too few chromosomes in a cell. As comparison, the average adult height for women in ... Sex chromosome aneuploidies are associated with psychosis, and schizophrenic women are more likely to have trisomy X than the ... Chromosome aneuploidies such as trisomy X are diagnosed via karyotype, the process in which chromosomes are tested from blood, ... These findings are not unique to trisomy X, but rather are seen in sex chromosome aneuploidy disorders as a whole. Severe ...
PGS is also called aneuploidy screening. PGS was renamed preimplantation genetic diagnosis for aneuploidy (PGD-A) by ... More probes can be added to check for aneuploidies, particularly those that could give rise to a viable pregnancy (such as a ... The main advantage is that NGS can combine the detection of both aneuploidies and monogenic diseases with a single biopsy and ... Likewise, NGS also allows us to detect aneuploidies in the 24 chromosomes and single-gene defects when there is an indication ...
Autosomal aneuploidy is more dangerous than sex chromosome aneuploidy, as autosomal aneuploidy is almost always lethal to ... However, mitotic aneuploidy may be more common than previously recognized in somatic tissues, and aneuploidy is a ... Aneuploidy Testing Aneuploidy FAQ Genetics of Aneuploids (CS1: long volume value, Articles with short description, Short ... Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes ...
Aneuploidy definition, undefined See more.
... 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 1 *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 ...
Constitutive aneuploidy was found at all ages, from infants (age 2, 3.2% aneuploidy) to young adults (age 15, 3.8% aneuploidy ... through middle age (ages 35 and 48, 3.6% aneuploidy), and in geriatric samples (ages 77 and 86, 4.8% and 5.2% aneuploidy, ... Constitutional Aneuploidy in the Normal Human Brain. Stevens K. Rehen, Yun C. Yung, Matthew P. McCreight, Dhruv Kaushal, Amy H ... Constitutional Aneuploidy in the Normal Human Brain. Stevens K. Rehen, Yun C. Yung, Matthew P. McCreight, Dhruv Kaushal, Amy H ...
Similar words for Aneuploidy. Definition: noun. an abnormality involving a chromosome number that is not an exact multiple of ... 1. aneuploidy noun. an abnormality involving a chromosome number that is not an exact multiple of the haploid number (one ... Sentences with aneuploidy 1. Noun, singular or mass Scientists refer to the condition whereby cells have an incorrect number of ...
aneuploidy. Time-lapse images of embryos used to boost IVF success. Expert Reactions , Published: 17 May 2013. 28 March 2016. ...
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Twins with nonconcordant sexual aneuploidy. Message subject: (Your Name) has forwarded a page to you from Journal of Medical ...
Twenty-nine semen slides (13 from the exposed group and 16 from the unexposed group) were randomly chosen for aneuploidy ... Home / Resources / Publications / Sperm Aneuploidy among Chinese Pesticide Factory Workers: Scoring by the FISH Method ... Background: A study of the prevalence of sperm aneuploidy among pesticide factory workers was conducted in Anhui, China. ... Sperm Aneuploidy among Chinese Pesticide Factory Workers: Scoring by the FISH Method. ...
... has been shown better at predicting fetal aneuploidies than standard screening in a new study among a general obstetric ... cfDNA testing predicts aneuploidy in low-risk pregnancies. March 1, 2014. Article ... Massively parallel sequencing of maternal cell-free DNA (cfDNA testing) has been shown better at predicting fetal aneuploidies ... Massively parallel sequencing of maternal cell-free DNA (cfDNA testing) has been shown better at predicting fetal aneuploidies ...
Mitotic disturbance associated with mosaic aneuploidies.. Miller K et al. 11169558. 2001. Variegated aneuploidy related to ... Variegated aneuploidy related to premature centromere division (PCD). 2000-11-01 Alberto Plaja Affiliation Unitat de Genötica, ... it has been proposed that patients with variegated aneuploidy related to PCD are homozygotes for this trait, but in several ... Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?. Warburton D et al. ...
Aneuploidies were detected in 7.3% and partial chromosome abnormalities in 0.45% (n = 13), including 5 referred for maternal ... Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens ... common autosomal aneuploidies, and 20 microdeletion/microduplication syndromes, designed as an alternative to microarray in low ... pregnancies and an alternative to rapid aneuploidy testing in pregnancies also undergoing microarray analysis. ...
As aneuploidy is associated with aging and senescence, regulation of the rate of aneuploidy is of interest to many age-related ... Aneuploidy is often a stochastic process. ScRNA-seq is well-poised to quantify patterns of aneuploidy. While scRNA-seq can ... Aneuploidy is a hallmark of solid tumors and CNAs originating from aneuploidy alter more genes than canonical single-nucleotide ... aneuploidy. Since hundreds of genes are present on chromosome arms, high-quality inferences of aneuploidy can be made from ...
Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins by ... Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins. J. ... Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins. J. ... Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins. ...
You are here : Home , News , In utero germ-cell exposure to bisphenols : a role for oxidative damage in oocyte aneuploidy ... In utero germ-cell exposure to bisphenols: a role for oxidative damage in oocyte aneuploidy. ©Marie-Justine Guerquin (iRCM) ... aneuploidy), in turn responsible for numerous miscarriages and fertility disorders. Although the mechanisms driving its ... and that faulty segregation to oocyte aneuploidy. ...
... ... Characterization and investigation of DNA replication helicase defect as a consequence of aneuploidy ... Characterization and investigation of DNA replication helicase defect as a consequence of aneuploidy. Dissertation, LMU München ...
Aneuploidy causes severe developmental defects and is a near universal feature of tumor cells. Despite its profound effects, ... the cellular processes affected by aneuploidy are not well characterized. Here, we examined the consequences of aneuploidy on ... Our results show that aneuploidy causes alterations in metabolism and redox homeostasis. Cells respond to these alterations ... Our proteomic analyses further revealed a novel aneuploidy-associated protein expression signature characteristic of altered ...
2 thoughts on "Aneuploidy and the cause of cancer" * Tony Logan on May 1, 2008 at 11:37 am. said: ... Aneuploidy and the cause of cancer. Posted on April 30, 2008. by JB ... His proposition for chromosomal damage by cell aneuploidy, supports the suspicion that many of us have had and is being ...
Conclusions Although ffDNA is a more accurate way of screening for aneuploidy, the majority of women are still using other ... Background Free fetal DNA (ffDNA) testing for aneuploidy has recently started being offered to all women in our institution who ... Results 118 (46%) women had ffDNA for screening for aneuploidy, the remaining 140 (54%) chose either other screening options or ... PF.38 Uptake of Free Fetal DNA For Aneuploidy Screening in Women of Advanced Maternal Age ...
Whats missing in sex chromosome aneuploidies? Representation and inclusion. Home » Library » All Variations » Whats missing ... Whats missing in sex chromosome aneuploidies? Representation and inclusion. Article Title: Whats missing in sex chromosome ...
Aneuploidy was detected in 49% of liquid biopsies from a total of 883 nonmetastatic, clinically detected cancers of the ... Combining aneuploidy with somatic mutation detection and eight standard protein biomarkers yielded a median sensitivity of 80% ... We report a sensitive PCR-based assay called Repetitive Element AneupLoidy Sequencing System (RealSeqS) that can detect ... aneuploidy in samples containing as little as 3 pg of DNA. Using a single primer pair, we amplified ∼350,000 amplicons ...
CENP-E is essential to prevent aneuploidy resulting from the loss or gain of one (or a few) chromosome(s) The high frequency of ... Second, wild-type primary MEFs do not generate aneuploidy at a significant rate in vitro (Babu et al., 2003), but CENP-EΔ/Δ ... Centromere-associated protein-E is essential for the mammalian mitotic checkpoint to prevent aneuploidy due to single ... resulting in aneuploidy in 25% of divisions in primary mouse fibroblasts in vitro and in 95% of regenerating hepatocytes in ...
Aneuploidy and Tumorigenesis Dr. Marianna Trakala uses a novel inducible mouse model in which she can generate high levels of ... chromosome missegregation and aneuploidy in adult mice in tissue-specific manner. By utilizing scRNA sequencing Dr. Trakala has ...
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Here, we report a pilot study that compared the occurrence of DNA aneuploidy and chromosomal copy number aberrations (CNAs) in ... Tongue OPMLs were more frequently associated with DNA aneuploidy and CNAs than OPMLs arising from all the other mucosal ... From: Chromosomal aberrations and aneuploidy in oral potentially malignant lesions: distinctive features for tongue ...
Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. The most recognized forms of ... Aneuploidy of sex chromosomes can also occur. The presence of extra X chromosome(s) causes Klinefelter syndrome in men and ... For organisms that are normally triploid or above, disomy is an aneuploidy. It can also refer to cells that are normally ... Several prenatal tests can be performed on an expectant mother to detect aneuploidy in the fetus. Fetal cells from the amniotic ...
Sperm aneuploidy[edit]. Exposure of males to certain lifestyle, environmental and/or occupational hazards may increase the risk ... Abnormal numbers of chromosomes or chromosome sets, called aneuploidy, may be lethal or may give rise to genetic disorders.[51] ... Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (August 2001). "Cigarette smoking and aneuploidy in human sperm". ... Increased aneuploidy is often associated with increased DNA damage in spermatozoa. ...
aneuploidy assurance centromere effect chromosomal disorders interference meiosis meiotic crossovers meiotic recombination. ...
In 1990, Drugan et al examined 305 women with 2 or more miscarriages and found an increased risk for fetal aneuploidy in these ... Aneuploidy. Cytogenetically abnormal embryos are usually aneuploid because of sporadic events, such as meiotic nondisjunction, ... Another reason for their result could be the flaws inherent in the FISH procedure, such as inability to detect aneuploidy in ... This involves using FISH to screen the removed blastomere for aneuploidy in older women and in those with recurrent SABs. ...
OBJECTIVE: To determine if preimplantation genetic testing for aneuploidy (PGT-A) is cost-effective for patients undergoing in ... Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed ... "Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed ... Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed ...
  • Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. (wikipedia.org)
  • Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells (nondisjunction). (wikipedia.org)
  • Most cases of aneuploidy in the autosomes result in miscarriage, and the most common extra autosomal chromosomes among live births are 21, 18 and 13. (wikipedia.org)
  • Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated. (medlineplus.gov)
  • The resulting errors in the sorting of chromosomes typically leads to the aneuploidy that occurs in MVA syndrome. (medlineplus.gov)
  • Aneuploidy is defined as the loss and/or gain of chromosomes to produce a numerical deviation from multiples of the haploid chromosomal complement ( King and Stansfield, 1990 ). (jneurosci.org)
  • We tested 2,970 prenatal samples of all referral indications using a rapid BACs-on-Beads-based assay with probes for sex chromosomes, common autosomal aneuploidies, and 20 microdeletion/microduplication syndromes, designed as an alternative to microarray in low-risk pregnancies and an alternative to rapid aneuploidy testing in pregnancies also undergoing microarray analysis. (nih.gov)
  • Aneuploidy is known to confer cellular biology effects both dependent and independent of the particular chromosomes altered. (techscience.com)
  • It was the first to be shown to alter oogenesis and lead to the formation of oocytes with an abnormal number of chromosomes (aneuploidy), in turn responsible for numerous miscarriages and fertility disorders. (cea.fr)
  • Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder . (wikidoc.org)
  • Aneuploidy of sex chromosomes can also occur. (wikidoc.org)
  • Gains and losses of whole chromosomes, termed aneuploidy , is seen in at least half of all tumors. (lu.se)
  • We study how aneuploidy affects the transcriptome and proteome as well as the role of chromatin architecture in in the context of aneuploidy, using NGS-based methods as well as cytogenetic analyses of chromosomes. (lu.se)
  • However, human eggs frequently contain an incorrect number of chromosomes - a condition termed aneuploidy, which is much more prevalent in eggs than in either sperm or in most somatic cells. (mbexc.de)
  • Chromosomal aneuploidy refers to abnormal numbers of chromosomes in the egg. (wdxcyber.com)
  • In this study, we evaluated the random aneuploidy rate with chromosomes 9 and 18 in bone marrow from treated and untreated patients. (tau.ac.il)
  • These data suggest that one possible mechanism for lead chromate-induced carcinogenesis is through centrosome dysfunction, leading to the induction of aneuploidy. (elsevierpure.com)
  • Here, we examined the consequences of aneuploidy on the proteome of aneuploid budding yeast strains. (elifesciences.org)
  • PloidyNet': The impact of chromosomal instability on health: Molecular causes and consequences of aneuploidy' - A Marie Curie Initial Training Network. (umcg.nl)
  • Although it is clear that aneuploidy can contribute to cancer, the molecular consequences of aneuploidy and how it contributes to malignant transformation remain elusive. (umcg.nl)
  • The most frequent aneuploidy in humans is trisomy 16 and fetuses affected with the full version of this chromosome abnormality do not survive to term, although it is possible for surviving individuals to have the mosaic form, where trisomy 16 exists in some cells but not all. (wikipedia.org)
  • Further, many fetuses with aneuploidy will not demonstrate significant sonographic findings, making detection limited. (lww.com)
  • Karyotyping of cells obtained by either amniocentesis or CVS is the standard and definitive means of diagnosing aneuploidy in fetuses. (cdc.gov)
  • Interestingly, increased protein turnover attenuates ROS levels and this novel aneuploidy-associated signature and improves the fitness of most aneuploid strains. (elifesciences.org)
  • Autosomal aneuploidy is more dangerous than sex chromosome aneuploidy, as autosomal aneuploidy is almost always lethal to embryos that cease developing because of it. (wikipedia.org)
  • cfDNA testing previously has been proven to accurately detect fetal autosomal aneuploidy in high-risk pregnant women. (contemporaryobgyn.net)
  • In general, individuals who are mosaic for a chromosomal aneuploidy tend to have a less severe form of the syndrome compared to those with full trisomy. (wikipedia.org)
  • These things are chromosomal aneuploidy and decreased ovarian reserve. (wdxcyber.com)
  • However, mitotic aneuploidy may be more common than previously recognized in somatic tissues, and aneuploidy is a characteristic of many types of tumorigenesis (see below). (wikipedia.org)
  • Combining aneuploidy with somatic mutation detection and eight standard protein biomarkers yielded a median sensitivity of 80% in these eight cancer types, while only 1% of 812 healthy controls scored positive. (nih.gov)
  • Here, we provide clinical evidence that high expression of PLK1 could have detrimental effects in tumors with DNA aneuploidy, which may increase the risk of recurrence in gastric cancer patients. (elsevierpure.com)
  • Aneuploidies were detected in 7.3% and partial chromosome abnormalities in 0.45% (n = 13), including 5 referred for maternal age, abnormal maternal serum screen, or isolated ultrasound markers. (nih.gov)
  • Background: A study of the prevalence of sperm aneuploidy among pesticide factory workers was conducted in Anhui, China. (unc.edu)
  • The crude proportion of all aneuploidy combined was 0.30% and 0.19% for sperm from exposed and unexposed men, respectively. (unc.edu)
  • Poisson regression with overdispersion adjustment yielded significantly different crude risks of aneuploidy - 3.03 and 1.94 per 1,000 sperm from exposed and unexposed men, respectively - giving a rate ratio of 1.56 (95% CI, 1.06-2.31). (unc.edu)
  • Conclusions: We conclude that occupational exposure to organophosphate pesticides moderately increases the prevalence of sperm aneuploidy. (unc.edu)
  • Aneuploidy arises from errors in chromosome segregation, which can go wrong in several ways. (wikipedia.org)
  • Aneuploidy arises as a consequence of aberrant meiosis during egg development from its progenitor cell, the oocyte. (mbexc.de)
  • The most common aneuploidy that infants can survive with is trisomy 21, which is found in Down syndrome, affecting 1 in 800 births. (wikipedia.org)
  • The most recognized forms of aneuploidy are the trisomy diseases of Down syndrome and Edwards syndrome . (wikidoc.org)
  • In the United States, the current standard of care in obstetrical practice is to offer either CVS or amniocentesis to women who will be greater than or equal to 35 years of age when they give birth, because these women are at increased risk for giving birth to infants with Down syndrome and certain other types of aneuploidy. (cdc.gov)
  • Aneuploidy: from a physiological mechanism of variance to Down syndrome. (bvsalud.org)
  • His proposition for chromosomal damage by cell aneuploidy , supports the suspicion that many of us have had and is being established more so in the mainstream …that cancer is caused by combination of poor diet, lethargy, non-nutritional, toxin ridden industrial food manufacturing, fast foods and man made environmental toxins and carcinogens of all sorts. (notmytribe.com)
  • Aneuploidy appears to have detrimental consequences for the physiology of normal cells, inhibiting rather than stimulating cell proliferation, but cancer cells seem to benefit from aneuploidy suggesting that cancer cells have acquired mutations that help them cope with aneuploidy. (umcg.nl)
  • Abnormalities in DNA ploidy are a consequence of genomic instability that has been shown to predict future cancer risk in non-dysplastic BO when measured by flow cytometry, with a relative risk of 5.0 for aneuploidy ( Reid et al, 2000b ). (nature.com)
  • What Is Aneuploidy and Why Is It So Common in Cancer Cells? (cancer.gov)
  • Indeed, high expression of PLK1 was also associated with DNA aneuploidy in clinical gastric cancer specimens. (elsevierpure.com)
  • Aneuploidy in Cancer and Aging. (bvsalud.org)
  • Here, we suggest a new perspective to reconcile this apparent paradox and share an unexpected link between aneuploidy and aging that was discovered through attempts to investigate the CIN- cancer relationship. (bvsalud.org)
  • IC à 95 % : 1,4-5,0) était significativement associé à un risque accru de cancer, et ce risque était même supérieur en présence d'un tabagisme paternel important. (who.int)
  • Background Free fetal DNA (ffDNA) testing for aneuploidy has recently started being offered to all women in our institution who are high risk for trisomy 21 (aged 35 or over at estimated date of delivery). (bmj.com)
  • Three clinical guideline publications address use of cfDNA for screening prenatal fetal aneuploidy, also referred to as noninvasive prenatal screening (NIPS). (cdc.gov)
  • These disturbances may lead ultimately to errors in chromosome segregation during the metaphase of meiosis, and that faulty segregation to oocyte aneuploidy. (cea.fr)
  • Chromosome segregation errors increase in women from their mid-thirties, leading to even higher levels of aneuploidy in eggs from women of advanced maternal age, ultimately causing age-related infertility. (mbexc.de)
  • Here, we cover the two main areas that contribute to aneuploidy: (1) factors that influence the fidelity of chromosome segregation in eggs of women from all ages and (2) factors that change in response to reproductive ageing. (mbexc.de)
  • When chromosome segregation is flawed, the emerging daughter cells acquire unbalanced chromosome content, a state known as aneuploidy. (umcg.nl)
  • Massively parallel sequencing of maternal cell-free DNA (cfDNA testing) has been shown better at predicting fetal aneuploidies than standard screening in a new study among a general obstetric population. (contemporaryobgyn.net)
  • For organisms that are normally triploid or above, disomy is an aneuploidy. (wikidoc.org)
  • Twenty-one centers in the United States were included in the research, which was performed on 1914 women (mean age 29.6 years) with singleton pregnancies who were undergoing standard aneuploidy screening with serum biochemical assays with or without nuchal translucency measurement. (contemporaryobgyn.net)
  • Some people with TRIP13 gene mutations have chromosome abnormalities that indicate problems with chromosome sorting but do not develop aneuploidy. (medlineplus.gov)
  • We therefore examined the uptake rate of ffDNA for aneuploidy screening in women of advanced maternal age who had been seen by a genetic counsellor. (bmj.com)
  • Although preimplantation genetic screening (PGS) of a removed blastomere for aneuploidy would theoretically increase the likelihood of embryonic implantation, reports in the literature have been conflicting with regard to the efficacy of this technique. (medscape.com)
  • Scholars@Duke publication: Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed embryo transfer and clinical miscarriage. (duke.edu)
  • OBJECTIVE: To determine if preimplantation genetic testing for aneuploidy (PGT-A) is cost-effective for patients undergoing in vitro fertilization (IVF). (duke.edu)
  • To our knowledge, this is the first report on new chromosomal changes such as random aneuploidy and triploidy under imatinib treatment, but more studies are needed to investigate the long-term effect of the imatinib treatment on genetic instability. (tau.ac.il)
  • Aneuploidy, the loss or gain of chromosome arms, appears less prevalent in normal tissue in these clonal mutant next-generation sequencing analyses. (techscience.com)
  • Given that aneuploidy is (a) known to contribute to cell biology and (b) is present at some detectable level in many cell types, it is valuable for single-cell sequencing studies to include aneuploidy information in their analyses. (techscience.com)
  • Our proteomic analyses further revealed a novel aneuploidy-associated protein expression signature characteristic of altered metabolism and redox homeostasis. (elifesciences.org)
  • We use large-scale sequencing and array-based analyses of bulk and single cells as well as experimental systems to understand whether aneuploidy is always associated with chromosomal instability (CIN) and to delineate the pathways by which aneuploidy arise. (lu.se)
  • Aneuploidy causes severe developmental defects and is a near universal feature of tumor cells. (elifesciences.org)
  • Dr. Marianna Trakala uses a novel inducible mouse model in which she can generate high levels of chromosome missegregation and aneuploidy in adult mice in tissue-specific manner. (mit.edu)
  • Despite its profound effects, the cellular processes affected by aneuploidy are not well characterized. (elifesciences.org)
  • Whereas over 900 tools are available to analyze scRNA-seq data (as monitored on https://www.scrna-tools.org/), only a handful output aneuploidy data or its sub-chromosomal equivalent copy number alterations (CNAs). (techscience.com)
  • Our results show that aneuploidy causes alterations in metabolism and redox homeostasis. (elifesciences.org)
  • We report a sensitive PCR-based assay called Repetitive Element AneupLoidy Sequencing System (RealSeqS) that can detect aneuploidy in samples containing as little as 3 pg of DNA. (nih.gov)
  • In turn, aneuploidy in eggs is a leading cause of infertility, miscarriage and congenital syndromes. (mbexc.de)
  • Scientists refer to the condition whereby cells have an incorrect number of chromosome as aneuploidy . (synonym.com)
  • We encourage scientists to report stochastic aneuploidy events alongside scRNA-seq datasets. (techscience.com)
  • PloidyNet brings together 9 academic and 3 industrial partners throughout Europe, to train 11 young promising scientists in the field of aneuploidy over the next four years. (umcg.nl)
  • In cell lines, overexpression of PLK1 induced centrosome amplification and multipolar spindles, potentially leading to DNA aneuploidy. (elsevierpure.com)
  • One biologically relevant variable is readily inferred from scRNA-seq gene count tables regardless of individual gene representation within single cells: aneuploidy. (techscience.com)
  • The scientific challenge of PloidyNet is thus to determine and compare the molecular consequences of different levels of aneuploidy. (umcg.nl)
  • We performed molecular clustering using data on chromosome-arm-level aneuploidy, DNA hypermethylation, mRNA, and miRNA expression levels and reverse-phase protein arrays, of which all, except for aneuploidy, revealed clustering primarily organized by histology, tissue type, or anatomic origin. (nih.gov)
  • The most commonly reported phenotype is the activation of senescence programs in association with aneuploidy. (techscience.com)
  • Thus, fluconazole tolerance in C. albicans is regulated by temperature and by aneuploidy and is dependent upon aneuploidy, but this dependence can be bypassed by an additional aneuploidy. (microbiologyresearch.org)