Aneuploidy. Medical search

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)

There are several types of aneuploidy, including:

1. Trisomy: This is the presence of an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21 (trisomy 21).
2. Monosomy: This is the absence of a chromosome.
3. Mosaicism: This is the presence of both normal and abnormal cells in the body.
4. Uniparental disomy: This is the presence of two copies of a chromosome from one parent, rather than one copy each from both parents.

Aneuploidy can occur due to various factors such as errors during cell division, exposure to certain chemicals or radiation, or inheritance of an abnormal number of chromosomes from one's parents. The risk of aneuploidy increases with age, especially for women over the age of 35, as their eggs are more prone to errors during meiosis (the process by which egg cells are produced).

Aneuploidy can be diagnosed through various methods such as karyotyping (examining chromosomes under a microscope), fluorescence in situ hybridization (FISH) or quantitative PCR. Treatment for aneuploidy depends on the underlying cause and the specific health problems it has caused. In some cases, treatment may involve managing symptoms, while in others, it may involve correcting the genetic abnormality itself.

In summary, aneuploidy is a condition where there is an abnormal number of chromosomes present in a cell, which can lead to various developmental and health problems. It can occur due to various factors and can be diagnosed through different methods. Treatment depends on the underlying cause and the specific health problems it has caused.

Causes of Chromosomal Instability:

1. Genetic mutations: Mutations in genes that regulate the cell cycle or chromosome segregation can lead to CIN.
2. Environmental factors: Exposure to certain environmental agents such as radiation and certain chemicals can increase the risk of developing CIN.
3. Errors during DNA replication: Mistakes during DNA replication can also lead to CIN.

Types of Chromosomal Instability:

1. Aneuploidy: Cells with an abnormal number of chromosomes, either more or fewer than the normal diploid number (46 in humans).
2. Structural changes: Deletions, duplications, inversions, translocations, and other structural changes can occur in the chromosomes.
3. Unstable chromosome structures: Chromosomes with abnormal shapes or structures, such as telomere shortening, centromere instability, or chromosome breaks, can also lead to CIN.

Effects of Chromosomal Instability:

1. Cancer: CIN can increase the risk of developing cancer by disrupting normal cellular processes and leading to genetic mutations.
2. Aging: CIN can contribute to aging by shortening telomeres, which are the protective caps at the ends of chromosomes that help maintain their stability.
3. Neurodegenerative diseases: CIN has been implicated in the development of certain neurodegenerative diseases such as Alzheimer's and Parkinson's.
4. Infertility: CIN can lead to infertility by disrupting normal meiotic recombination and chromosome segregation during gametogenesis.

Detection and Diagnosis of Chromosomal Instability:

1. Karyotyping: This is a technique used to visualize the entire set of chromosomes in a cell. It can help identify structural abnormalities such as deletions, duplications, or translocations.
2. Fluorescence in situ hybridization (FISH): This technique uses fluorescent probes to detect specific DNA sequences or proteins on chromosomes. It can help identify changes in chromosome structure or number.
3. Array comparative genomic hybridization (aCGH): This technique compares the genetic material of a sample to a reference genome to identify copy number changes.
4. Next-generation sequencing (NGS): This technique can identify point mutations and other genetic changes in DNA.

Treatment and Management of Chromosomal Instability:

1. Cancer treatment: Depending on the type and stage of cancer, treatments such as chemotherapy, radiation therapy, or surgery may be used to eliminate cancer cells with CIN.
2. Prenatal testing: Pregnant women with a family history of CIN can undergo prenatal testing to detect chromosomal abnormalities in their fetuses.
3. Genetic counseling: Individuals with a family history of CIN can consult with a genetic counselor to discuss risk factors and potential testing options.
4. Lifestyle modifications: Making healthy lifestyle choices such as maintaining a balanced diet, exercising regularly, and not smoking can help reduce the risk of developing cancer and other diseases associated with CIN.

In conclusion, chromosomal instability is a common feature of many human diseases, including cancer, and can be caused by a variety of factors. The diagnosis and management of CIN require a multidisciplinary approach that includes cytogenetic analysis, molecular diagnostics, and clinical evaluation. Understanding the causes and consequences of CIN is crucial for developing effective therapies and improving patient outcomes.

There are several types of chromosome aberrations, including:

1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.

Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.

Chromosome aberrations are associated with a wide range of diseases, including:

1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.

Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.

Trisomy is caused by an extra copy of a chromosome, which can be due to one of three mechanisms:

1. Trisomy 21 (Down syndrome): This is the most common type of trisomy and occurs when there is an extra copy of chromosome 21. It is estimated to occur in about 1 in every 700 births.
2. Trisomy 13 (Patau syndrome): This type of trisomy occurs when there is an extra copy of chromosome 13. It is estimated to occur in about 1 in every 10,000 births.
3. Trisomy 18 (Edwards syndrome): This type of trisomy occurs when there is an extra copy of chromosome 18. It is estimated to occur in about 1 in every 2,500 births.

The symptoms of trisomy can vary depending on the type of trisomy and the severity of the condition. Some common symptoms include:

* Delayed physical growth and development
* Intellectual disability
* Distinctive facial features, such as a flat nose, small ears, and a wide, short face
* Heart defects
* Vision and hearing problems
* GI issues
* Increased risk of infection

Trisomy can be diagnosed before birth through prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis. After birth, it can be diagnosed through a blood test or by analyzing the child's DNA.

There is no cure for trisomy, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition. This may include physical therapy, speech therapy, occupational therapy, and medication to manage heart defects or other medical issues. In some cases, surgery may be necessary to correct physical abnormalities.

The prognosis for trisomy varies depending on the type of trisomy and the severity of the condition. Some forms of trisomy are more severe and can be life-threatening, while others may have a more mild impact on the individual's quality of life. With appropriate medical care and support, many individuals with trisomy can lead fulfilling lives.

In summary, trisomy is a genetic condition that occurs when there is an extra copy of a chromosome. It can cause a range of symptoms and can be diagnosed before or after birth. While there is no cure for trisomy, treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition.

There are many different types of chromosome disorders, including:

1. Trisomy: This is a condition in which there is an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21.
2. Monosomy: This is a condition in which there is a missing copy of a chromosome.
3. Turner syndrome: This is a condition in which there is only one X chromosome instead of two.
4. Klinefelter syndrome: This is a condition in which there are three X chromosomes instead of the typical two.
5. Chromosomal translocations: These are abnormalities in which a piece of one chromosome breaks off and attaches to another chromosome.
6. Inversions: These are abnormalities in which a segment of a chromosome is reversed end-to-end.
7. Deletions: These are abnormalities in which a portion of a chromosome is missing.
8. Duplications: These are abnormalities in which there is an extra copy of a segment of a chromosome.

Chromosome disorders can have a wide range of effects on the body, depending on the type and severity of the condition. Some common features of chromosome disorders include developmental delays, intellectual disability, growth problems, and physical abnormalities such as heart defects or facial anomalies.

There is no cure for chromosome disorders, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with these conditions. Treatment may include medications, therapies, and surgery, as well as support and resources for families and caregivers.

Preventive measures for chromosome disorders are not currently available, but research is ongoing to understand the causes of these conditions and to develop new treatments and interventions. Early detection and diagnosis can help identify chromosome disorders and provide appropriate support and resources for individuals and families.

In conclusion, chromosome disorders are a group of genetic conditions that affect the structure or number of chromosomes in an individual's cells. These conditions can have a wide range of effects on the body, and there is no cure, but treatment and support are available to help manage symptoms and improve quality of life. Early detection and diagnosis are important for identifying chromosome disorders and providing appropriate support and resources for individuals and families.

An abnormal karyotype can lead to a range of health problems, including developmental delays, intellectual disability, and an increased risk of certain diseases. Some common types of abnormal karyotypes include:

1. Trisomy: This occurs when there are three copies of a particular chromosome instead of the usual two. For example, trisomy 21 (also known as Down syndrome) is caused by an extra copy of chromosome 21.
2. Monosomy: This occurs when there is only one copy of a particular chromosome instead of the usual two.
3. Structural abnormalities: These occur when there are changes in the structure of the chromosomes, such as deletions, duplications, or translocations.
4. Mosaicism: This occurs when there is a mixture of normal and abnormal cells in the body, with the abnormal cells having an abnormal karyotype.

An abnormal karyotype can be diagnosed through a blood test or a biopsy, and treatment options will depend on the specific type of chromosomal abnormality and the severity of the symptoms. In some cases, the only option may be to manage the symptoms with medication or other supportive therapies. In other cases, surgery or other more invasive treatments may be necessary.

It is important for individuals with an abnormal karyotype to receive regular medical care and monitoring to ensure that any potential health problems are identified and addressed promptly. With appropriate treatment and support, many individuals with chromosomal abnormalities can lead fulfilling lives.

Polyploidy is a condition where an organism has more than two sets of chromosomes, which are the thread-like structures that carry genetic information. It can occur in both plants and animals, although it is relatively rare in most species. In humans, polyploidy is extremely rare and usually occurs as a result of errors during cell division or abnormal fertilization.

In medicine, polyploidy is often used to describe certain types of cancer, such as breast cancer or colon cancer, that have extra sets of chromosomes. This can lead to the development of more aggressive and difficult-to-treat tumors.

However, not all cases of polyploidy are cancerous. Some individuals with Down syndrome, for example, have an extra copy of chromosome 21, which is a non-cancerous form of polyploidy. Additionally, some people may be born with extra copies of certain genes or chromosomal regions due to errors during embryonic development, which can lead to various health problems but are not cancerous.

Overall, the term "polyploidy" in medicine is used to describe any condition where an organism has more than two sets of chromosomes, regardless of whether it is cancerous or non-cancerous.

There are several types of genetic nondisjunction, including:

1. Robertsonian translocation: This type of nondisjunction involves the exchange of genetic material between two chromosomes, resulting in a mixture of genetic information that can lead to developmental abnormalities.
2. Turner syndrome: This is a rare condition that occurs when one X chromosome is missing or partially present, leading to physical and developmental abnormalities in females.
3. Klinefelter syndrome: This condition occurs when an extra X chromosome is present, leading to physical and developmental abnormalities in males.
4. Trisomy 13: This condition occurs when there are three copies of chromosome 13, leading to severe developmental and physical abnormalities.
5. Trisomy 18: This condition occurs when there are three copies of chromosome 18, leading to severe developmental and physical abnormalities.

Genetic nondisjunction can be caused by various factors, including genetic mutations, errors during meiosis, or exposure to certain chemicals or radiation. It can be diagnosed through cytogenetic analysis, which involves studying the chromosomes of cells to identify any abnormalities.

Treatment for genetic nondisjunction depends on the specific type and severity of the condition. In some cases, no treatment is necessary, while in others, medication or surgery may be recommended. Prenatal testing can also be done to detect genetic nondisjunction before birth.

In summary, genetic nondisjunction is a chromosomal abnormality that occurs during meiosis and can lead to developmental and physical abnormalities. It can be caused by various factors and diagnosed through cytogenetic analysis. Treatment depends on the specific type and severity of the condition, and prenatal testing is available to detect genetic nondisjunction before birth.

Down syndrome can be diagnosed before birth through prenatal testing, such as chorionic villus sampling or amniocentesis, or after birth through a blood test. The symptoms of Down syndrome can vary from person to person, but common physical features include:

* A flat face with a short neck and small ears
* A short stature
* A wide, short hands with short fingers
* A small head
* Almond-shaped eyes that are slanted upward
* A single crease in the palm of the hand

People with Down syndrome may also have cognitive delays and intellectual disability, as well as increased risk of certain medical conditions such as heart defects, gastrointestinal problems, and hearing and vision loss.

There is no cure for Down syndrome, but early intervention and proper medical care can greatly improve the quality of life for individuals with the condition. Treatment may include speech and language therapy, occupational therapy, physical therapy, and special education programs. With appropriate support and resources, people with Down syndrome can lead fulfilling and productive lives.

There are several types of genomic instability, including:

1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.

Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.

Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.

In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.

Male infertility can be caused by a variety of factors, including:

1. Low sperm count or poor sperm quality: This is one of the most common causes of male infertility. Sperm count is typically considered low if less than 15 million sperm are present in a sample of semen. Additionally, sperm must be of good quality to fertilize an egg successfully.
2. Varicocele: This is a swelling of the veins in the scrotum that can affect sperm production and quality.
3. Erectile dysfunction: Difficulty achieving or maintaining an erection can make it difficult to conceive.
4. Premature ejaculation: This can make it difficult for the sperm to reach the egg during sexual intercourse.
5. Blockages or obstructions: Blockages in the reproductive tract, such as a blockage of the epididymis or vas deferens, can prevent sperm from leaving the body during ejaculation.
6. Retrograde ejaculation: This is a condition in which semen is released into the bladder instead of being expelled through the penis during ejaculation.
7. Hormonal imbalances: Imbalances in hormones such as testosterone and inhibin can affect sperm production and quality.
8. Medical conditions: Certain medical conditions, such as diabetes, hypogonadism, and hyperthyroidism, can affect fertility.
9. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and stress can all impact fertility.
10. Age: Male fertility declines with age, especially after the age of 40.

There are several treatment options for male infertility, including:

1. Medications to improve sperm count and quality
2. Surgery to repair blockages or obstructions in the reproductive tract
3. Artificial insemination (IUI) or in vitro fertilization (IVF) to increase the chances of conception
4. Donor sperm
5. Assisted reproductive technology (ART) such as ICSI (intracytoplasmic sperm injection)
6. Hormone therapy to improve fertility
7. Lifestyle changes such as quitting smoking and alcohol, losing weight, and reducing stress.

It's important to note that male infertility is a common condition and there are many treatment options available. If you're experiencing difficulty conceiving, it's important to speak with a healthcare provider to determine the cause of infertility and discuss potential treatment options.

People with XYY karyotype may experience a range of physical and developmental symptoms, including:

* Delayed speech and language development
* Learning disabilities
* Behavioral problems such as ADHD
* Short stature
* Increased risk of infertility or low sperm count
* Other health problems such as heart defects or eye abnormalities

The XYY karyotype is usually diagnosed through chromosomal analysis, which can be performed on a blood sample or other tissue sample. The condition is relatively rare, occurring in less than 1% of the male population.

There is no specific treatment for XYY karyotype, but individuals with the condition may benefit from early intervention and special education services to address any developmental delays or learning disabilities. In some cases, hormone therapy or other medical treatments may be recommended to address related health issues.

KS occurs in approximately 1 in every 500-1000 male births and is usually diagnosed at puberty or later in life when symptoms become apparent. The extra X chromosome can affect the development of the body, including physical characteristics such as taller stature, less muscle mass, and smaller testes. It can also cause infertility due to low levels of testosterone and other hormonal imbalances.

Symptoms of KS can include:

* Tall stature
* Inferior height compared to peers
* Less muscle mass
* Small testes
* Breast enlargement (gynecomastia)
* Reduced facial and body hair
* Infertility or low sperm count
* Learning disabilities
* Speech and language delays
* Social and emotional difficulties

KS can be diagnosed through chromosomal analysis, which involves examining the patient's cells to determine their sex chromosomes. Treatment for KS typically involves hormone replacement therapy (HRT) to address any hormonal imbalances and may include surgery or other interventions to address physical characteristics such as breasts or infertility.

It is important to note that KS is a spectrum disorder, meaning that the severity of symptoms can vary widely among individuals with the condition. Some men with KS may have mild symptoms and lead relatively normal lives, while others may experience more significant challenges. With appropriate medical care and support, many individuals with KS are able to lead fulfilling lives.

Types of Sex Chromosome Aberrations:

1. Turner Syndrome: A condition where a female has only one X chromosome instead of two (45,X).
2. Klinefelter Syndrome: A condition where a male has an extra X chromosome (47,XXY) or an extra Y chromosome (47,XYYY).
3. XXX Syndrome: A rare condition where a female has three X chromosomes instead of two.
4. XYY Syndrome: A rare condition where a male has an extra Y chromosome (48,XYY).
5. Mosaicism: A condition where a person has a mixture of cells with different numbers of sex chromosomes.

Effects of Sex Chromosome Aberrations:

Sex chromosome aberrations can cause a range of physical and developmental abnormalities, such as short stature, infertility, and reproductive problems. They may also increase the risk of certain health conditions, including:

1. Congenital heart defects
2. Cognitive impairments
3. Learning disabilities
4. Developmental delays
5. Increased risk of infections and autoimmune disorders

Diagnosis of Sex Chromosome Aberrations:

Sex chromosome aberrations can be diagnosed through various methods, including:

1. Karyotyping: A test that involves analyzing the number and structure of an individual's chromosomes.
2. Fluorescence in situ hybridization (FISH): A test that uses fluorescent probes to detect specific DNA sequences on chromosomes.
3. Chromosomal microarray analysis: A test that looks for changes in the number or structure of chromosomes by analyzing DNA from blood or other tissues.
4. Next-generation sequencing (NGS): A test that analyzes an individual's entire genome to identify specific genetic variations, including sex chromosome aberrations.

Treatment and Management of Sex Chromosome Aberrations:

There is no cure for sex chromosome aberrations, but there are various treatments and management options available to help alleviate symptoms and improve quality of life. These may include:

1. Hormone replacement therapy (HRT): To address hormonal imbalances and related symptoms.
2. Assisted reproductive technologies (ART): Such as in vitro fertilization (IVF) or preimplantation genetic diagnosis (PGD), to help individuals with infertility or pregnancy complications.
3. Prenatal testing: To identify sex chromosome aberrations in fetuses, allowing parents to make informed decisions about their pregnancies.
4. Counseling and support: To help individuals and families cope with the emotional and psychological impact of a sex chromosome abnormality diagnosis.
5. Surgeries or other medical interventions: To address related health issues, such as infertility, reproductive tract abnormalities, or genital ambiguity.

It's important to note that each individual with a sex chromosome aberration may require a unique treatment plan tailored to their specific needs and circumstances. A healthcare provider can work with the individual and their family to develop a personalized plan that takes into account their medical, emotional, and social considerations.

In conclusion, sex chromosome aberrations are rare genetic disorders that can have significant implications for an individual's physical, emotional, and social well-being. While there is no cure for these conditions, advances in diagnostic testing and treatment options offer hope for improving the lives of those affected. With proper medical care, support, and understanding, individuals with sex chromosome aberrations can lead fulfilling lives.

There are several possible causes of oligospermia, including:

* Hormonal imbalances
* Varicocele (a swelling of the veins in the scrotum)
* Infections such as epididymitis or prostatitis
* Blockages such as a vasectomy or epididymal obstruction
* Certain medications such as anabolic steroids and chemotherapy drugs
* Genetic disorders
* Environmental factors such as exposure to toxins or radiation

Symptoms of oligospermia may include:

* Difficulty getting an erection
* Premature ejaculation
* Low sex drive
* Painful ejaculation

Diagnosis of oligospermia typically involves a physical exam, medical history, and semen analysis. Treatment will depend on the underlying cause of the condition, but may include medications to improve sperm count and quality, surgery to correct blockages or varicoceles, or assisted reproductive technologies such as in vitro fertilization (IVF).

It's important to note that a low sperm count does not necessarily mean a man is infertile. However, it can make it more difficult to conceive a child. With appropriate treatment and lifestyle changes, some men with oligospermia may be able to improve their fertility and have children.

Examples of fetal diseases include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21, which can cause delays in physical and intellectual development, as well as increased risk of heart defects and other health problems.
2. Spina bifida: A birth defect that affects the development of the spine and brain, resulting in a range of symptoms from mild to severe.
3. Cystic fibrosis: A genetic disorder that affects the respiratory and digestive systems, causing thick mucus buildup and recurring lung infections.
4. Anencephaly: A condition where a portion of the brain and skull are missing, which is usually fatal within a few days or weeks of birth.
5. Clubfoot: A deformity of the foot and ankle that can be treated with casts or surgery.
6. Hirschsprung's disease: A condition where the nerve cells that control bowel movements are missing, leading to constipation and other symptoms.
7. Diaphragmatic hernia: A birth defect that occurs when there is a hole in the diaphragm, allowing organs from the abdomen to move into the chest cavity.
8. Gastroschisis: A birth defect where the intestines protrude through a opening in the abdominal wall.
9. Congenital heart disease: Heart defects that are present at birth, such as holes in the heart or narrowed blood vessels.
10. Neural tube defects: Defects that affect the brain and spine, such as spina bifida and anencephaly.

Early detection and diagnosis of fetal diseases can be crucial for ensuring proper medical care and improving outcomes for affected babies. Prenatal testing, such as ultrasound and blood tests, can help identify fetal anomalies and genetic disorders during pregnancy.

Explanation: Neoplastic cell transformation is a complex process that involves multiple steps and can occur as a result of genetic mutations, environmental factors, or a combination of both. The process typically begins with a series of subtle changes in the DNA of individual cells, which can lead to the loss of normal cellular functions and the acquisition of abnormal growth and reproduction patterns.

Over time, these transformed cells can accumulate further mutations that allow them to survive and proliferate despite adverse conditions. As the transformed cells continue to divide and grow, they can eventually form a tumor, which is a mass of abnormal cells that can invade and damage surrounding tissues.

In some cases, cancer cells can also break away from the primary tumor and travel through the bloodstream or lymphatic system to other parts of the body, where they can establish new tumors. This process, known as metastasis, is a major cause of death in many types of cancer.

It's worth noting that not all transformed cells will become cancerous. Some forms of cellular transformation, such as those that occur during embryonic development or tissue regeneration, are normal and necessary for the proper functioning of the body. However, when these transformations occur in adult tissues, they can be a sign of cancer.

See also: Cancer, Tumor

Word count: 190

Example sentence: "The patient was diagnosed with tetrasomy 12p, a rare genetic disorder caused by an extra copy of chromosome 12."

There are several types of sex chromosome disorders, including:

1. Turner Syndrome: A condition that occurs in females who have only one X chromosome instead of two. This can lead to short stature, infertility, and other health problems.
2. Klinefelter Syndrome: A condition that occurs in males who have an extra X chromosome (XXY). This can lead to tall stature, breast enlargement, and infertility.
3. XXY Syndrome: A condition that occurs in individuals with two X chromosomes and one Y chromosome. This can lead to tall stature, breast enlargement, and fertility problems.
4. XYY Syndrome: A condition that occurs in individuals with an extra Y chromosome (XYY). This can lead to taller stature and fertility problems.
5. Mosaicism: A condition where there is a mixture of normal and abnormal cells in the body, often due to a genetic mutation that occurred during embryonic development.
6. Y chromosome variants: These are variations in the Y chromosome that can affect male fertility or increase the risk of certain health problems.
7. Uniparental disomy: A condition where an individual has two copies of one or more chromosomes, either due to a genetic mutation or because of a mistake during cell division.
8. Structural variations: These are changes in the structure of the sex chromosomes, such as deletions, duplications, or translocations, which can affect gene expression and increase the risk of certain health problems.

Sex chromosome disorders can be diagnosed through chromosomal analysis, which involves analyzing a person's cells to determine their sex chromosome makeup. Treatment for these disorders varies depending on the specific condition and may include hormone therapy, surgery, or other medical interventions.

Neoplasm refers to an abnormal growth of cells that can be benign (non-cancerous) or malignant (cancerous). Neoplasms can occur in any part of the body and can affect various organs and tissues. The term "neoplasm" is often used interchangeably with "tumor," but while all tumors are neoplasms, not all neoplasms are tumors.

Types of Neoplasms

There are many different types of neoplasms, including:

1. Carcinomas: These are malignant tumors that arise in the epithelial cells lining organs and glands. Examples include breast cancer, lung cancer, and colon cancer.
2. Sarcomas: These are malignant tumors that arise in connective tissue, such as bone, cartilage, and fat. Examples include osteosarcoma (bone cancer) and soft tissue sarcoma.
3. Lymphomas: These are cancers of the immune system, specifically affecting the lymph nodes and other lymphoid tissues. Examples include Hodgkin lymphoma and non-Hodgkin lymphoma.
4. Leukemias: These are cancers of the blood and bone marrow that affect the white blood cells. Examples include acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL).
5. Melanomas: These are malignant tumors that arise in the pigment-producing cells called melanocytes. Examples include skin melanoma and eye melanoma.

Causes and Risk Factors of Neoplasms

The exact causes of neoplasms are not fully understood, but there are several known risk factors that can increase the likelihood of developing a neoplasm. These include:

1. Genetic predisposition: Some people may be born with genetic mutations that increase their risk of developing certain types of neoplasms.
2. Environmental factors: Exposure to certain environmental toxins, such as radiation and certain chemicals, can increase the risk of developing a neoplasm.
3. Infection: Some neoplasms are caused by viruses or bacteria. For example, human papillomavirus (HPV) is a common cause of cervical cancer.
4. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and a poor diet can increase the risk of developing certain types of neoplasms.
5. Family history: A person's risk of developing a neoplasm may be higher if they have a family history of the condition.

Signs and Symptoms of Neoplasms

The signs and symptoms of neoplasms can vary depending on the type of cancer and where it is located in the body. Some common signs and symptoms include:

1. Unusual lumps or swelling
2. Pain
3. Fatigue
4. Weight loss
5. Change in bowel or bladder habits
6. Unexplained bleeding
7. Coughing up blood
8. Hoarseness or a persistent cough
9. Changes in appetite or digestion
10. Skin changes, such as a new mole or a change in the size or color of an existing mole.

Diagnosis and Treatment of Neoplasms

The diagnosis of a neoplasm usually involves a combination of physical examination, imaging tests (such as X-rays, CT scans, or MRI scans), and biopsy. A biopsy involves removing a small sample of tissue from the suspected tumor and examining it under a microscope for cancer cells.

The treatment of neoplasms depends on the type, size, location, and stage of the cancer, as well as the patient's overall health. Some common treatments include:

1. Surgery: Removing the tumor and surrounding tissue can be an effective way to treat many types of cancer.
2. Chemotherapy: Using drugs to kill cancer cells can be effective for some types of cancer, especially if the cancer has spread to other parts of the body.
3. Radiation therapy: Using high-energy radiation to kill cancer cells can be effective for some types of cancer, especially if the cancer is located in a specific area of the body.
4. Immunotherapy: Boosting the body's immune system to fight cancer can be an effective treatment for some types of cancer.
5. Targeted therapy: Using drugs or other substances to target specific molecules on cancer cells can be an effective treatment for some types of cancer.

Prevention of Neoplasms

While it is not always possible to prevent neoplasms, there are several steps that can reduce the risk of developing cancer. These include:

1. Avoiding exposure to known carcinogens (such as tobacco smoke and radiation)
2. Maintaining a healthy diet and lifestyle
3. Getting regular exercise
4. Not smoking or using tobacco products
5. Limiting alcohol consumption
6. Getting vaccinated against certain viruses that are associated with cancer (such as human papillomavirus, or HPV)
7. Participating in screening programs for early detection of cancer (such as mammograms for breast cancer and colonoscopies for colon cancer)
8. Avoiding excessive exposure to sunlight and using protective measures such as sunscreen and hats to prevent skin cancer.

It's important to note that not all cancers can be prevented, and some may be caused by factors that are not yet understood or cannot be controlled. However, by taking these steps, individuals can reduce their risk of developing cancer and improve their overall health and well-being.

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 ...

https://en.wikipedia.org/wiki/Aneuploidy

Because aneuploidy is a common feature in tumour cells, the presence of aneuploidy in cells does not necessarily mean CIN is ... CIN often results in aneuploidy. There are three ways that aneuploidy can occur. It can occur due to loss of a whole chromosome ... One way of differentiating aneuploidy without CIN and CIN-induced aneuploidy is that CIN causes widely variable (heterogeneous ... Segmental aneuploidy can occur due to deletions, amplifications or translocations, which arise from breaks in DNA, while loss ...

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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 ...

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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 ...

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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 ...

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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 ...

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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 ...

https://en.wikipedia.org/wiki/Polyploidy

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 ...

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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 ...

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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 ...

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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 ...

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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. ...

https://en.wikipedia.org/wiki/Jason_Sheltzer

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. ...

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High levels of sperm aneuploidy. Men with severe oligozoospermia, asthenozoospermia or teratozoospermia. The egg quality has ...

https://en.wikipedia.org/wiki/Intracytoplasmic_morphologically_selected_sperm_injection

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

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

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 ...

https://en.wikipedia.org/wiki/Pentasomy_X

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. ...

https://en.wikipedia.org/wiki/Dicentric_chromosome

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 ...

https://en.wikipedia.org/wiki/Choroid_plexus

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

https://en.wikipedia.org/wiki/Uniparental_disomy

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 ...

https://en.wikipedia.org/wiki/Oocyte_abnormalities

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 ...

https://en.wikipedia.org/wiki/The_Focus_Foundation

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 ...

https://en.wikipedia.org/wiki/Tetrasomy_X

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 ...

https://en.wikipedia.org/wiki/Ovum_quality

"Breakthrough Prizes Recognize Aneuploidy Researcher, Biochemist". The Scientist Magazine. 18 October 2018. Retrieved 20 October ...

https://en.wikipedia.org/wiki/C._Frank_Bennett

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- ...

https://en.wikipedia.org/wiki/Genetics_of_Down_syndrome

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 ...

https://en.wikipedia.org/wiki/Trisomy_X

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 ...

https://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis

Bharadwaj R, Yu H (March 2004). "The spindle checkpoint, aneuploidy, and cancer". Oncogene. 23 (11): 2016-27. doi:10.1038/sj. ...

https://en.wikipedia.org/wiki/Paclitaxel

Aneuploidy is a drastic divergence from the normal karyotype, as such the potential heterogeneity within these cells makes ... It is one of many causes of aneuploidy. This event can occur during both meiosis and mitosis with unique repercussions. In ... There are many ways to cause aneuploidy, however the genomic predispositions for these events are less well understood. In ... tested drug susceptibility on cell lines with and without aneuploidy. While the diploid cell lines remained drug sensitive, the ...

https://en.wikipedia.org/wiki/Anaphase_lag

Economic evaluation of prenatal screening for fetal aneuploidies in Thailand Preechaya Wongkrajang 1 2 , Jiraphun Jittikoon 3 ... Economic evaluation of prenatal screening for fetal aneuploidies in Thailand Preechaya Wongkrajang et al. PLoS One. 2023. . ... Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology ...

https://www.ncbi.nlm.nih.gov/pubmed/37713438

Sex Chromosome Aneuploidy Study conducted by the Section on Developmental Neurogenomics ... Sex Chromosome Aneuploidy. Sex Chromosome Aneuploidies (SCAs) arise due to carriage of an atypical number of X and/or Y- ... Sex Chromosome Aneuploidy Study. Join a Study. If you would like to learn more about becoming part of our ongoing studies of ... brain development in health and sex chromosome aneuploidy, please contact Jonathan Blumenthal, MA, at 301-435-4516 or jb364e@ ...

https://www.nimh.nih.gov/research/research-conducted-at-nimh/research-areas/clinics-and-labs/hgb/sdn/sex-chromosome-aneuploidy-study

... 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 ...

https://medlineplus.gov/genetics/condition/mosaic-variegated-aneuploidy-syndrome

Multiple aneuploidy recurrence Pietro Cavalli et al. Am J Med Genet A. 2005. . ... Multiple aneuploidy recurrence risk. Bianca S, Ingegnosi C, Cataliotti A, Ettore G. Bianca S, et al. Am J Med Genet A. 2006 Sep ...

https://pubmed.ncbi.nlm.nih.gov/16007627

Aneuploidy and Cancer - A Complicated Relationship

https://videocast.nih.gov/watch=26245

Harvard, Peking University Team Combines NGS, Linkage Analysis to Detect Aneuploidy, SNVs for PGD Dec 28, 2015 , Monica Heger ... The new technique is dubbed MARSALA, for mutated allele revealed by sequencing with aneuploidy and linkage analysis. It ... researchers have demonstrated that a next-generation sequencing-based approach to detect chromosomal aneuploidies in embryos ... Imaging Center at Peking University has developed a technique that combines low-coverage whole-genome sequencing for aneuploidy ...

https://www.genomeweb.com/sequencing-technology/harvard-peking-university-team-combines-ngs-linkage-analysis-detect-aneuploidy

Conclusion: QF- PCR proved its superior performance as a molecular-based method for autosomal aneuploidy detection concerning ... Study design: A retrospective cohort of 163 samples referred for screening of common chromosomal aneuploidies was blindly ... The currently available methods for rapid prenatal diagnosis of common chromosomal aneuploidies are either Interphase- ... QF-PCR as a molecular-based method for autosomal aneuploidies detection () Reham Moftah, Salah Marzouk, Dalal El-Kaffash, ...

https://www.scirp.org/journal/paperinformation.aspx?paperid=38915

Identification of Small Segmental Aneuploidies in Preimplantation Embryos. Identification of Small Segmental Aneuploidies in ...

https://www.agilent.com/en/video/identification-of-small-segmental-aneuploidies

Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing. Sun S, Miller M, Wang Y, Tyc KM, Cao X, ... Identification and characterization of Aurora kinase B and C variants associated with maternal aneuploidy Alexandra L Nguyen 1 ... Origins and mechanisms leading to aneuploidy in human eggs. Wartosch L, Schindler K, Schuh M, Gruhn JR, Hoffmann ER, McCoy RC, ... Identification and characterization of Aurora kinase B and C variants associated with maternal aneuploidy Alexandra L Nguyen et ...

https://pubmed.ncbi.nlm.nih.gov/28369513/

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 ...

https://edrn.nci.nih.gov/data-and-resources/publications/32075918-3214-assessing-aneuploidy-with-repetitive-element-sequencing/

A pilot study of DNA aneuploidy in colorectal adenomas and risk of adenoma recurrence. A R Kristal; A R Kristal ... A R Kristal, M S Baker, M J Flaherty, Z Feng, T J Ylvisaker, A D Feld, D S Levine; A pilot study of DNA aneuploidy in ... On the basis of the observed distribution of aneuploidy in case-control sets, the point estimate for the relative odds of ... This case-control study examined whether DNA aneuploidy in colorectal adenomas is a risk factor for subsequent adenoma ...

https://aacrjournals.org/cebp/article/4/4/347/155556/A-pilot-study-of-DNA-aneuploidy-in-colorectal

Noninvasive fetal aneuploidy detection technology allows for the detection of fetal genetic conditions, specifically having ... three chromosomes, a condition called aneuploidy, by analyzing a ... An aneuploidy in the thirteenth chromosome has severe ... "Digital PCR for the molecular detection of fetal chromosomal aneuploidy." Proceedings of the National Academy of Sciences ... For aneuploidies, fetal samples with three chromosomes measured higher than the normal level of fetal chromosomes of just two. ...

https://embryo.asu.edu/pages/noninvasive-fetal-aneuploidy-detection-trisomy-21-13-and-18

Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are ... By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the ... become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies ... Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Share ...

https://www.ndm.ox.ac.uk/publications/1231149?bf13bf22-04f7-11ee-804d-0646644c3148

Bypass of G1 arrest induced by DNMT1 posttranscriptional silencing triggers aneuploidy in human cells.. Barra, V;LENTINI, Laura ... Aneuploidy is a major source of genomic instability in cancer, resulting from chromosome segregation errors caused by defects ... Aneuploidy is a major source of genomic instability in cancer, resulting from chromosome segregation errors caused by defects ... We investigated the effects of DNMT1 silencing by RNA-interference on the generation of aneuploidy in primary human fibroblasts ...

https://iris.unipa.it/handle/10447/60020

Brown, J. A., Slezak, J. M., Lieber, M. M., & Jenkins, R. B. (1999). Fluorescence in situ hybridization aneuploidy as a ... Brown, JA, Slezak, JM, Lieber, MM & Jenkins, RB 1999, Fluorescence in situ hybridization aneuploidy as a predictor of clinical ... Dive into the research topics of Fluorescence in situ hybridization aneuploidy as a predictor of clinical disease recurrence ... T1 - Fluorescence in situ hybridization aneuploidy as a predictor of clinical disease recurrence and prostate-specific antigen ...

https://mayoclinic.pure.elsevier.com/en/publications/fluorescence-in-situ-hybridization-aneuploidy-as-a-predictor-of-c

Rare Double Aneuploidy (Down-Klinefelter Syndrome): A Case Report. Rare Double Aneuploidy (Down-Klinefelter Syndrome): A Case ... Double aneuploidies, such as Down syndrome and sex chromosome aneuploidies, are relatively rare. One rare form of double ... 48xxy+21; diabetes mellitus; double aneuploidy; downs syndrome; down-klinefelter syndrome; klinefelters syndrome ... aneuploidy, Down-Klinefelter syndrome, is described here. The phenotypic characteristics of a three-year-old child showed the ...

https://pesquisa.bvsalud.org/bolivia/resource/es/mdl-36514585

... providing an explanation for aneuploidy occurrence in tumors. Chromosomal instability leads to aneuploidy, a state of karyotype ... Here, we show that aneuploidy can also trigger CIN. We found that aneuploid cells experience DNA replication stress in their ... Altogether, our study reveals the short-term origins of CIN following aneuploidy and indicates the aneuploid state of cancer ... By inducing controlled chromosome mis-segregation, Santaguida and colleagues show that aneuploidy can also instigate ...

https://www.nature.com/articles/s41467-023-37095-7?error=cookies_not_supported&code=b32dabf9-abce-4389-8f1f-7c761a62b02a

Aneuploidy has been recognized as a hallmark of cancer for more than 100 years, yet no general theory has emerged to explain ... Elledge and his lab are now assessing how aneuploidy drives cancer and the potency with which it does so. They have found that ... Aneuploidy promotes a cell-proliferation program and inhibits the infiltration of immune cells leading to immune evasion. ... How aneuploidy drives cancer. Wednesday, May 24, 2017 , 3:00. to 4:00 p.m. ET. ...

https://oir.nih.gov/wals/2016-2017/how-aneuploidy-drives-cancer

https://www.oir.nih.gov/wals/2016-2017/how-aneuploidy-drives-cancer

N2 - Aneuploidy is a hallmark of tumor cells, and yet the precise relationship between aneuploidy and a cells proliferative ... AB - Aneuploidy is a hallmark of tumor cells, and yet the precise relationship between aneuploidy and a cells proliferative ... Aneuploidy is a hallmark of tumor cells, and yet the precise relationship between aneuploidy and a cells proliferative ability ... abstract = "Aneuploidy is a hallmark of tumor cells, and yet the precise relationship between aneuploidy and a cell{\ ...

https://experts.umn.edu/en/publications/the-fitness-consequences-of-aneuploidy-are-driven-by-condition-de

... Taylor AM, Shih J, Ha G, Gao GF, Zhang X, Berger AC, ... Aneuploidy, whole chromosome or chromosome arm imbalance, is a near-universal characteristic of human cancers. In 10,522 cancer ... Aneuploidy was anti-correlated with expression of immune signaling genes, due to decreased leukocyte infiltrates in high- ... This study defines genomic and phenotypic correlates of cancer aneuploidy and provides an experimental approach to study ...

http://gavinhalab.org/papers/taylor-cancercell/

... Authors: Souter I. (1), Hill DL. (2), Surrey MW (2). (1) University ... One explanation for implantation failure is the existence of chromosomal aneuploidy, or single gene defects. The purpose of the ...

https://artreproductivecenter.com/clinical-studies/the-rate-of-aneuploidy-in-morphologically-normal-embryos/

A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the ... A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the ... A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the ... A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the ...

https://research.regionh.dk/en/publications/a-simple-screening-method-for-detection-of-klinefelter-syndrome-a

Our New Braunfels fertility doctor discusses preimplantation genetic testing for aneuploidy and its benefits. ... Susan Hudson MD offers preimplantation genetic testing for aneuploidy, or PGT-A, as part of an IVF cycle. Our clinic partners ... Preimplantation genetic testing for aneuploidy counts an embryos chromosomes. PGT-A is a way to count the chromosomes in each ... Patients who want to pursue preimplantation genetic testing for aneuploidy will do so before freezing or transferring an IVF ...

https://www.fertility-texas.com/in-vitro-fertilization-ivf/pgt-a/

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https://combatrecruitment.org/job/therapy-aneuploidy-uncompetitive-closely-ribs-vomit/

Seenu V, Goel A. Can DNA aneuploidy study make surveillance colonoscopy more cost effective. Tropical Gastroenterology. 1993 ...

https://imsear.searo.who.int/handle/123456789/125187

This is a list of changes made recently to pages linked from a specified page (or to members of a specified category). Pages on your watchlist are bold. ...

https://teaching.ncl.ac.uk/bms/wiki/index.php?title=Special:RecentChangesLinked&limit=100&days=3&hidebots=&hideanons=1&hidemyself=1&target=Aneuploidy

Seraseq™ Aneuploidy Negative (Euploid) Reference Material #0720-0020 Vollwertiges Referenzmaterial für NGS-basierte NIPT-Tests ...

https://hiss-dx.at/en/suppliers/seracare/664/seraseq-aneuploidy-negative-euploid-reference-material

Prenatal fetal aneuploidy. Three clinical guideline publications address use of cfDNA for screening prenatal fetal aneuploidy, ... women be informed that NIPS using cell-free DNA is the most sensitive screening option for traditionally screened aneuploidies ...

https://blogs.cdc.gov/genomics/2022/12/14/the-use-of-cell-free-dna/

NEW YORK (GenomeWeb) - Over the last couple of years, researchers have demonstrated that a next-generation sequencing-based approach to detect chromosomal aneuploidies in embryos before they are implanted as part of an in vitro fertilization cycle can increase the success of IVF at a reasonable price. (genomeweb.com)
Thankfully, preimplantation genetic testing for aneuploidy can help determine which embryos contain too many or too few chromosomes. (fertility-texas.com)

If you would like to learn more about becoming part of our ongoing studies of brain development in health and sex chromosome aneuploidy, please contact Jonathan Blumenthal, MA, at 301-435-4516 or [email protected] . (nih.gov)
2004) Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. (scirp.org)

Objectives: The currently available methods for rapid prenatal diagnosis of common chromosomal aneuploidies are either Interphase-Fluorescence in Situ Hybridisation (I-FISH) or Quanti- tative Fluorescent Polymerase Chain Reaction (QF-PCR). (scirp.org)
2004) The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: Time for reconsideration. (scirp.org)
Faas, B.H., Cirigliano, V. and Bui, T.H. (2011) Rapid methods for targeted prenatal diagnosis of common chromosome aneuploidies. (scirp.org)
2002) Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR. (scirp.org)
2004) Prenatal diagnosis of common aneuploidies using multiplex quantitative fluorescent polymerase chain reaction. (scirp.org)
2008) OmniPlex-A new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population. (scirp.org)
2009) Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience. (scirp.org)
2004) Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. (scirp.org)
The test will analyze circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have an increased risk indicator/s for fetal chromosomal aneuploidy and are undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. (ucsd.edu)

Melanoma patients with tumors exhibiting high aneuploidy show poorer responses to immunotherapy with anti-CTLA4 antibodies. (nih.gov)
Aneuploidy was anti-correlated with expression of immune signaling genes, due to decreased leukocyte infiltrates in high-aneuploidy samples. (gavinhalab.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)

By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. (ox.ac.uk)
Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. (ox.ac.uk)
With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. (ox.ac.uk)

Study design: A retrospective cohort of 163 samples referred for screening of common chromosomal aneuploidies was blindly tested for chromosome 21, 18 and 13 copy numbers using QF-PCR and the results were compared with those of conventional cytogenetic analysis. (scirp.org)

Sex Chromosome Aneuploidies (SCAs) arise due to carriage of an atypical number of X and/or Y-chromosomes beyond the typical female (XX) or male (XY) complement. (nih.gov)
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)
The resulting problems with spindle microtubule organization may prevent the normal separation of chromosomes during cell division, leading to aneuploidy, although the mechanism is unknown. (medlineplus.gov)
Noninvasive fetal aneuploidy detection technology allows for the detection of fetal genetic conditions, specifically having three chromosomes, a condition called aneuploidy , by analyzing a simple blood sample from the pregnant woman. (asu.edu)
By integrating the driver predictions with information on somatic copy-number alterations, his lab has found that the distribution and the potency of TSGs (STOP genes), OGs, and essential genes (GO genes) on chromosomes can predict the complex patterns of aneuploidy and copy-number variation characteristic of cancer genomes. (nih.gov)

They have also discovered that different classes of aneuploidy drive transcriptional programs for two hallmarks of cancer. (nih.gov)

Three clinical guideline publications address use of cfDNA for screening prenatal fetal aneuploidy, also referred to as noninvasive prenatal screening (NIPS). (cdc.gov)

A pilot study of DNA aneuploidy in colorectal adenomas and risk of adenoma recurrence. (aacrjournals.org)
This case-control study examined whether DNA aneuploidy in colorectal adenomas is a risk factor for subsequent adenoma recurrence. (aacrjournals.org)

Some people with TRIP13 gene mutations have chromosome abnormalities that indicate problems with chromosome sorting but do not develop aneuploidy. (medlineplus.gov)
It is also unclear how BUB1B or TRIP13 gene mutations or aneuploidy is involved in the other features of the condition. (medlineplus.gov)
Maternal age does not always predict aneuploidy risk, and rare gene variants can be drivers of disease. (nih.gov)
One explanation for implantation failure is the existence of chromosomal aneuploidy, or single gene defects. (artreproductivecenter.com)
The impacts of aneuploidy on gene expression arise via multiple mechanisms of dysregulation. (embies.com)
1. Increased cell division contributes to carcinogenesis by both gene mutation and aneuploidy. (nih.gov)
2. Gene mutation and aneuploidy might cooperate to carcinogenesis by dysregulation of asymmetric division of adult stem cells. (nih.gov)

Now, a research team from Harvard University, the Third Hospital at Peking University, and the Biodynamic Optical Imaging Center at Peking University has developed a technique that combines low-coverage whole-genome sequencing for aneuploidy detection with targeted deep sequencing and linkage analysis to identify SNVs. (genomeweb.com)
It incorporates single cell analysis using MALBAC to determine aneuploidy status via low-coverage whole-genome sequencing and adds steps for SNV calling and verification. (genomeweb.com)
Altogether, our study reveals the short-term origins of CIN following aneuploidy and indicates the aneuploid state of cancer cells as a point mutation-independent source of genome instability, providing an explanation for aneuploidy occurrence in tumors. (nature.com)
Such an advantage could be explained by the possibility that aneuploidy induces CIN (and, more broadly, genome instability), which might enable a continuous sculpting of the genome, eventually leading to cumulative haploinsufficiency and triplosensitivity 15 , 16 of genes crucial for sustained proliferation. (nature.com)
In this study, we have combined a detailed analysis of aneuploid clones isolated from laboratory-evolved populations of Saccharomyces cerevisiae with a systematic, genome-wide screen for the fitness effects of telomeric amplifications to address the relationship between aneuploidy and cellular fitness. (umn.edu)
In 10,522 cancer genomes from The Cancer Genome Atlas, aneuploidy was correlated with TP53 mutation, somatic mutation rate, and expression of proliferation genes. (gavinhalab.org)
6. Aneuploidy-selected paternal vs. maternal genome contribute to the malignant phenotype of cancer. (nih.gov)

This study defines genomic and phenotypic correlates of cancer aneuploidy and provides an experimental approach to study chromosome arm aneuploidy. (gavinhalab.org)
So-called tertiary effects may additionally arise in response to the phenotypic effects of aneuploidy (e.g., growth defects). (embies.com)

Conclusion: QF- PCR proved its superior performance as a molecular-based method for autosomal aneuploidy detection concerning both sensitivity and specificity. (scirp.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)
Dennis Lo and Rossa Chiu researched methods of detection of aneuploidies in the early twenty-first century. (asu.edu)

Mansfield, E.S. (1993) Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. (scirp.org)
Rare Double Aneuploidy (Down-Klinefelter Syndrome): A Case Report. (bvsalud.org)
Double aneuploidies , such as Down syndrome and sex chromosome aneuploidies , are relatively rare. (bvsalud.org)
One rare form of double aneuploidy , Down- Klinefelter syndrome , is described here. (bvsalud.org)

Our results suggest that Dnmt1 depletion triggers a cell cycle arrest pathway mediated by TP53 in IMR90 cells, whose dysfunction induces aneuploidy likely affecting the correct chromosome segregation by altering pericentromeric structure. (unipa.it)

An aneuploidy in the thirteenth chromosome has severe developmental consequences such as brain and spinal cord abnormalities, cleft palate, as well as heart and eye defects. (asu.edu)
12. The consequences of tetraploidy and aneuploidy. (nih.gov)

Aneuploidy is a major source of genomic instability in cancer, resulting from chromosome segregation errors caused by defects in genes controlling correct mitotic spindle assembly, centrosome duplication and cell cycle checkpoints. (unipa.it)

CIN leads invariably to aneuploidy, a state of karyotype imbalances, found in more than 90% of solid tumors and about 65% of blood cancers 1 . (nature.com)

We investigated the effects of DNMT1 silencing by RNA-interference on the generation of aneuploidy in primary human fibroblasts (IMR90) and stable near-diploid human tumor cells (HCT116). (unipa.it)
Aneuploidy is a hallmark of tumor cells, and yet the precise relationship between aneuploidy and a cell's proliferative ability, or cellular fitness, has remained elusive. (umn.edu)

We investigated environmental and family factors with a detailed questionnaire and andrological examination, sperm characteristics, sperm DNA/chromatin status using the sperm chromatin structure assay (SCSA) and terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) and sperm aneuploidy using fluorescence in situ hybridization (FISH). (biomedcentral.com)

Interestingly, the same signatures are upregulated in highly-proliferative cancer cells, which might enable them to proliferate despite the disadvantage conferred by aneuploidy-induced CIN. (nature.com)

Aneuploidy has been recognized as a hallmark of cancer for more than 100 years, yet no general theory has emerged to explain the recurring patterns of aneuploidy in cancer. (nih.gov)

They have found that, in many cases, aneuploidy predicts survival better than do mutational drivers or existing clinical parameters. (nih.gov)

Susan Hudson MD offers preimplantation genetic testing for aneuploidy, or PGT-A, as part of an IVF cycle. (fertility-texas.com)
Patients who want to pursue preimplantation genetic testing for aneuploidy will do so before freezing or transferring an IVF embryo. (fertility-texas.com)
These data pave the way for further studies to demonstrate the value of preimplantation genetic screening in men with increased sperm aneuploidy whose partners experience unexplained RPL. (biomedcentral.com)

Nous avons étudié les facteurs environnementaux et familiaux à partir d'un questionnaire détaillé ainsi que les données de l'examen andrologique, les caractéristiques du sperme, la fragmentation de l'ADN et la chromatine du spermatozoïde en utilisant le sperm chromatine structure assay (SCSA) et le test du TUNEL, ainsi que l'aneuploïdie des spermatozoïdes grâce à la méthode d'hybridation in situ de sonde chromosomique (FISH). (biomedcentral.com)

We conclude that in this convenience sample, DNA aneuploidy increased the risk of recurrent colorectal adenomas. (aacrjournals.org)

CIN invariably leads to aneuploidy, a state of karyotype imbalance. (nature.com)
Aneuploidy, whole chromosome or chromosome arm imbalance, is a near-universal characteristic of human cancers. (gavinhalab.org)

Aneuploidy promotes a cell-proliferation program and inhibits the infiltration of immune cells leading to immune evasion. (nih.gov)

The results of the ccff aneuploidy test will be compared to the chromosomal analysis obtained via CVS or genetic amniocentesis. (ucsd.edu)

IMSEAR at SEARO: Can DNA aneuploidy study make surveillance colonoscopy more cost effective. (who.int)
Seenu V, Goel A. Can DNA aneuploidy study make surveillance colonoscopy more cost effective. (who.int)

Bypass of G1 arrest induced by DNMT1 posttranscriptional silencing triggers aneuploidy in human cells. (unipa.it)
Dnmt1 depletion induced aneuploidy in addition to cell proliferation delay in HCT116 cells and transient G1 arrest in IMR90 cells. (unipa.it)
4. Defining the steps that lead to cancer: replicative telomere erosion, aneuploidy and an epigenetic maturation arrest of tissue stem cells. (nih.gov)

Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy. (medscape.com)
13. Cell biology: aneuploidy and cancer. (nih.gov)
20. [Cell cannibalism by entosis: a new pathway leading to aneuploidy in cancer]. (nih.gov)

14. Aneuploidy directly contribute to carcinogenesis by disrupting the asymmetric division of adult stem cells. (nih.gov)

11. Aneuploidy-promoted immortal DNA strands to random separation is a root cause of cancer. (nih.gov)

Although the most common cause is embryo aneuploidy, and despite female checkup and couple karyotyping, in about 50% of cases RPL remain unexplained. (biomedcentral.com)

Here, we show that aneuploidy can also trigger CIN. (nature.com)

Anatomy20

Diseases21

Chemicals and Drugs8

Analytical, Diagnostic and Therapeutic Techniques and Equipment16

Phenomena and Processes38

Disciplines and Occupations1

Health Care2

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

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

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

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

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

Chromosome abnormalities in human embryos. (6/2123)

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

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

No images available that match "aneuploidy"

Aneuploidy

Chromosomal Instability

In Situ Hybridization, Fluorescence

Preimplantation Diagnosis

Chromosome Aberrations

Karyotyping

Chromosome Segregation

Ploidies

Trisomy

Chromosome Disorders

Chromosomes, Human, Pair 18

Abnormal Karyotype

Diploidy

Mosaicism

Polyploidy

Chromosomes, Human

Nondisjunction, Genetic

Spermatozoa

Aneugens

Polar Bodies

Meiosis

Chromosomes, Human, X

Down Syndrome

Centrosome

Mad2 Proteins

Karyotype

Mitosis

Chromosomes, Human, Pair 13

Pregnancy

Sex Chromosomes

Spindle Apparatus

Maternal Age

Chromosomes, Human, Y

Chromosomes, Human, Pair 21

Genomic Instability

Infertility, Male

Chromosomes

XYY Karyotype

Prenatal Diagnosis

Metaphase

Klinefelter Syndrome

Cytogenetic Analysis

Y Chromosome

Sex Chromosome Aberrations

DNA, Neoplasm

Primed In Situ Labeling

Cytogenetics

Aurora Kinases

Oligospermia

Spectral Karyotyping

Maternal Serum Screening Tests

Sperm Injections, Intracytoplasmic

M Phase Cell Cycle Checkpoints

Oocytes

Ultrasonography, Prenatal

Aurora Kinase A

Pregnancy Trimester, First

Abortion, Spontaneous

Fetal Diseases

Chromatids

Amniocentesis

p-Fluorophenylalanine

Kinetochores

Image Cytometry

Flow Cytometry

Genetic Testing

Cell Transformation, Neoplastic

Cell Cycle Proteins

Tetrasomy

Comparative Genomic Hybridization

Nuchal Translucency Measurement

Sex Chromosome Disorders

Blastomeres

X Chromosome

Haploidy

Chromosomes, Human, Pair 12

Centromere

Demecolcine

Neoplasms

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