Aneuploidy
Chromosomal Instability
In Situ Hybridization, Fluorescence
Preimplantation Diagnosis
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 18
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
Chromosomes, Human, Y
Chromosomes, Human, Pair 21
Genomic Instability
Infertility, Male
Chromosomes
Prenatal Diagnosis
Metaphase
Klinefelter Syndrome
Cytogenetic Analysis
Y Chromosome
Sex Chromosome Aberrations
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
Kinetochores
Image Cytometry
Flow Cytometry
Genetic Testing
Cell Transformation, Neoplastic
Cell Cycle Proteins
Comparative Genomic Hybridization
Nuchal Translucency Measurement
Sex Chromosome Disorders
Blastomeres
X Chromosome
Haploidy
Chromosomes, Human, Pair 12
Centromere
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.
Aneuploidy
Chromosome instability
Autosome
Genetics and abortion
SRC1
Angelika Amon
BUB1
Polyploidy
Spindle checkpoint
Spermatozoon
Recurrent miscarriage
Human genetic variation
Jason Sheltzer
Entosis
Intracytoplasmic morphologically selected sperm injection
List of OMIM disorder codes
Pentasomy X
Dicentric chromosome
Choroid plexus
Uniparental disomy
Oocyte abnormalities
The Focus Foundation
Tetrasomy X
Ovum quality
C. Frank Bennett
Genetics of Down syndrome
Trisomy X
Preimplantation genetic diagnosis
Paclitaxel
Anaphase lag
Economic evaluation of prenatal screening for fetal aneuploidies in Thailand - PubMed
NIMH » Sex Chromosome Aneuploidy Study
Mosaic variegated aneuploidy syndrome: MedlinePlus Genetics
Multiple aneuploidy recurrence - PubMed
NIH VideoCast - Aneuploidy and Cancer - A Complicated Relationship
Harvard, Peking University Team Combines NGS, Linkage Analysis to Detect Aneuploidy, SNVs for PGD | GenomeWeb
QF-PCR as a molecular-based method for autosomal aneuploidies detection
Identification of Small Segmental Aneuploidies in Preimplantation Embryos | Agilent
Identification and characterization of Aurora kinase B and C variants associated with maternal aneuploidy - PubMed
Assessing aneuploidy with repetitive element sequencing.
A pilot study of DNA aneuploidy in colorectal adenomas and risk of adenoma recurrence. | Cancer Epidemiology, Biomarkers &...
Noninvasive Fetal Aneuploidy Detection for Trisomy 21, 13,
and 18
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. - Nuffield...
Bypass of G1 arrest induced by DNMT1 posttranscriptional
silencing triggers aneuploidy in
human cells.
Fluorescence in situ hybridization aneuploidy as a predictor of clinical disease recurrence and prostate-specific antigen level...
Rare Double Aneuploidy (Down-Klinefelter Syndrome): A Case Report. | Cureus;14(11): e31330, 2022 Nov. | MEDLINE
Short-term molecular consequences of chromosome mis-segregation for genome stability | Nature Communications
How aneuploidy drives cancer | NIH Office of Intramural Research
How aneuploidy drives cancer | NIH Office of Intramural Research
The Fitness Consequences of Aneuploidy Are Driven by Condition-Dependent Gene Effects<...
Genomic and Functional Approaches to Understanding Cancer Aneuploidy
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...
PGT-A - Preimplantation Genetic Testing for Aneuploidy - New Braunfels
Therapy aneuploidy uncompetitive, closely ribs vomit. - Combat Recruitment Ltd
IMSEAR at SEARO: Can DNA aneuploidy study make surveillance colonoscopy more cost effective.
Changes related to "Aneuploidy" - The School of Biomedical Sciences Wiki
Seraseq™ Aneuploidy Negative (Euploid) Reference Material | SeraCare | Suppliers | HiSS Diagnostics
The Use of Cell-free DNA in Clinical Practice: Work in Progress | Blogs | CDC
Embryos2
- 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)
Chromosome Aneuploidy2
- 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)
Prenatal diagnosis9
- 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)
High aneuploidy2
- 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)
Detect Aneuploidy1
- 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)
Autosomal Aneuploidies3
- 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)
Chromosomal aneuploidies1
- 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)
Chromosomes6
- 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)
Transcriptional1
- They have also discovered that different classes of aneuploidy drive transcriptional programs for two hallmarks of cancer. (nih.gov)
Noninvasive1
- Three clinical guideline publications address use of cfDNA for screening prenatal fetal aneuploidy, also referred to as noninvasive prenatal screening (NIPS). (cdc.gov)
Recurrence2
- 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)
Gene7
- 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)
Genome7
- 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)
Phenotypic2
- 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)
Detection3
- 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)
Syndrome4
- 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)
Induces1
- 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)
Consequences2
Genomic1
- 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)
Tumors1
- 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)
Tumor cells2
- 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)
Fluorescence1
- 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)
Proliferative1
- 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)
Hallmark1
- 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)
Clinical1
- They have found that, in many cases, aneuploidy predicts survival better than do mutational drivers or existing clinical parameters. (nih.gov)
Preimplantation3
- 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)
Assay1
- 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)
Recurrent1
- We conclude that in this convenience sample, DNA aneuploidy increased the risk of recurrent colorectal adenomas. (aacrjournals.org)
Imbalance2
- 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)
Promotes1
- Aneuploidy promotes a cell-proliferation program and inhibits the infiltration of immune cells leading to immune evasion. (nih.gov)
Genetic1
- The results of the ccff aneuploidy test will be compared to the chromosomal analysis obtained via CVS or genetic amniocentesis. (ucsd.edu)
Study2
Arrest3
- 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)
Cell3
- 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)
Cells1
- 14. Aneuploidy directly contribute to carcinogenesis by disrupting the asymmetric division of adult stem cells. (nih.gov)
Separation1
- 11. Aneuploidy-promoted immortal DNA strands to random separation is a root cause of cancer. (nih.gov)
Common1
- 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)
Show1
- Here, we show that aneuploidy can also trigger CIN. (nature.com)