Argon Plasma Coagulation
Nijmegen Breakage Syndrome
Amniotic Band Syndrome
Loss of Heterozygosity
Cell Transformation, Neoplastic
Aurora Kinase A
Sister Chromatid Exchange
Chromosome Fragile Sites
Tumor Suppressor Protein p53
Fanconi Anemia Complementation Group G Protein
Fanconi Anemia Complementation Group Proteins
DNA Breaks, Double-Stranded
Ataxia Telangiectasia Mutated Proteins
M Phase Cell Cycle Checkpoints
Comparative Genomic Hybridization
Chromosomes, Human, Pair 4
Fanconi Anemia Complementation Group C Protein
Fanconi Anemia Complementation Group A Protein
Fanconi Anemia Complementation Group F Protein
Nucleic Acid Hybridization
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 7
Gonadal Dysgenesis, 46,XX
Chromosomes, Human, Pair 20
Tumor Cells, Cultured
DNA Repair Enzymes
Tumor Suppressor Proteins
Gene Expression Regulation, Neoplastic
Telomeric Repeat Binding Protein 1
Polymerase Chain Reaction
Fanconi Anemia Complementation Group D2 Protein
MutS Homolog 2 Protein
Adaptor Proteins, Signal Transducing
Telomeric Repeat Binding Protein 2
Molecular Sequence Data
Cell Line, Transformed
Reverse Transcriptase Polymerase Chain Reaction
DNA Sequence, Unstable
Adenomatous Polyposis Coli Protein
Chromosomes, Human, Pair 18
Base Pair Mismatch
Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin. (1/873)Patients with Nijmegen Breakage Syndrome (NBS) have a high risk to develop malignant diseases, most frequently B-cell lymphomas. It has been demonstrated that this chromosomal breakage syndrome results from mutations in the NBS1 gene that cause either a loss of full-length protein expression or expression of a variant protein. A large proportion of the known NBS patients are of Slavic origin who carry a major founder mutation 657del5 in exon 6 of the NBS1 gene. The prevalence of this mutation in Slav populations is reported to be high, possibly contributing to higher cancer risk in these populations. Therefore, if mutations in NBS1 are associated with higher risk of developing lymphoid cancers it would be most likely to be observed in these populations. A multiplex assay for four of the most frequent NBS1 mutations was designed and a series of 119 lymphoma patients from Slavic origin as well as 177 healthy controls were tested. One of the patients was a heterozygote carrier of the ACAAA deletion mutation in exon 6 (1/119). No mutation was observed in the control group, despite the reported high frequency (1/177). The power of this study was 30% to detect a relative risk of 2.0. (+info)
Lymphoma development in Bax transgenic mice is inhibited by Bcl-2 and associated with chromosomal instability. (2/873)Bax is a Bcl-2 family member that promotes apoptosis but has paradoxical effects on lymphoma development in p53-deficient mice. To better understand the mechanism of Bax-induced lymphoma development, the effect of Bax levels, p53 status and Bcl-2 coexpression on lymphoma development were determined. In addition, DNA content and cytogenetics were performed on young (premalignant) Lck-Bax mice as measures of genetic instability. Bax promoted lymphoma development in p53-deficient mice in a dose-dependent manner. Bax expression also led to lymphoma development in both p53 +/- and +/+ animals. Ploidy analysis in mice prior to the onset of overt thymic lymphomas demonstrated that Lck-Bax transgenic mice were more likely to be aneuploid and demonstrate increased chromosome instability. With tumor progression, aneuploidy increased and Bax expression was maintained. Importantly, coexpression of Bcl-2 delayed lymphoma development in Lck-Bax transgenic mice. These data support a model in which increased sensitivity to apoptosis leads directly to chromosome instability in developing T cells and may explain a number of paradoxical observations regarding Bcl-2 family members and the regulation of cancer. (+info)
Chromosomal instability detected by fluorescence in situ hybridization in surgical specimens of non-small cell lung cancer is associated with poor survival. (3/873)PURPOSE: Chromosomal instability (CIN) in non-small cell lung cancer (NSCLC) has yet to be well studied. We examined the relationship between CIN detected by fluorescence in situ hybridization and survival in patients with NSCLC. EXPERIMENTAL DESIGN: Touch preparations from 50 surgical specimens of NSCLC were studied. Tumors included 34 adenocarcinomas, 15 squamous cell carcinomas, and 1 large cell carcinoma. The pathologic stage was IA in 14, IB in 17, IIB in 8, IIIA in 9, and IIIB in 2 cases. Enumeration of chromosomes 3, 10, 11, and 17 was used to determine which tumors carried CIN. The association between CIN and survival was also analyzed. RESULTS: Disomy was most common, but tetrasomy and trisomy of the examined chromosomes were seen frequently. Fourteen tumors (28%) showed heterogeneity of all four chromosomes examined and were judged to be carrying CIN. Both univariate and multivariate analyses revealed that two factors, lymph node metastasis and CIN, were significant poor prognostic factors. CONCLUSIONS: CIN in NSCLC detected by fluorescence in situ hybridization is an independent factor predicting a poor prognosis. (+info)
Chromosomal instability rather than p53 mutation is associated with response to neoadjuvant cisplatin-based chemotherapy in gastric carcinoma. (4/873)PURPOSE: The objective of the study was to evaluate microsatellite alterations [microsatellite instability (MSI) and loss of heterozygosity (LOH)] and mutation in the p53 gene in relation to response and patient survival to a cisplatin-based neoadjuvant chemotherapy in gastric cancer. EXPERIMENTAL DESIGN: Fifty-three pretherapeutic gastric carcinoma biopsies were analyzed with 11 microsatellite markers. The entire coding region of the p53 gene (exons 2-11) was analyzed for mutations by denaturing high-pressure liquid chromatography and sequencing. p53 protein expression was evaluated by immunohistochemistry. Patients were treated with a cisplatin-based, neoadjuvant chemotherapy regimen. Therapy response was evaluated by computed tomography scan, endoscopy, and endoluminal ultrasound. The median follow-up of the patients was 45.6 months. RESULTS: p53 mutations were identified in 19 of the 53 (36%) analyzed tumors. No significant association with response or survival was found for p53 mutation or for p53 protein expression. MSI (either high-grade MSI or low-grade MSI) did not show a correlation with response. With respect to LOH, LOH at chromosome 17p13 showed a significant association with therapy response (P = 0.022) but did not reach statistical significance in terms of patient survival. The global LOH rate, expressed as fractional allelic loss (FAL), was assessed, and tumors were classified into tumors with a high (>0.5), medium (>0.25-0.5), and low (0-0.25) FAL value. A statistically significant association of FAL with therapy response was found (P = 0.003), with a high FAL being related to therapy response. The sensitivity, specificity, positive predictive value, and negative predictive value for FAL > 0.5 were 45%, 93%, 82%, and 72%, respectively. CONCLUSIONS: A high level of chromosomal instability (high FAL value) defines a subset of patients who are more likely to benefit from cisplatin-based neoadjuvant chemotherapy. p53 mutation status is not significantly associated with therapy response and is not a useful marker for response prediction. (+info)
Drosophila melanogaster and D. simulans rescue strains produce fit offspring, despite divergent centromere-specific histone alleles. (5/873)The interaction between rapidly evolving centromere sequences and conserved kinetochore machinery appears to be mediated by centromere-binding proteins. A recent theory proposes that the independent evolution of centromere-binding proteins in isolated populations may be a universal cause of speciation among eukaryotes. In Drosophila the centromere-specific histone, Cid (centromere identifier), shows extensive sequence divergence between D. melanogaster and the D. simulans clade, indicating that centromere machinery incompatibilities may indeed be involved in reproductive isolation and speciation. However, it is presently unclear whether the adaptive evolution of Cid was a cause of the divergence between these species, or merely a product of postspeciation adaptation in the separate lineages. Furthermore, the extent to which divergent centromere identifier proteins provide a barrier to reproduction remains unknown. Interestingly, a small number of rescue lines from both D. melanogaster and D. simulans can restore hybrid fitness. Through comparisons of cid sequence between nonrescue and rescue strains, we show that cid is not involved in restoring hybrid viability or female fertility. Further, we demonstrate that divergent cid alleles are not sufficient to cause inviability or female sterility in hybrid crosses. Our data do not dispute the rapid divergence of cid or the coevolution of centromeric components in Drosophila; however, they do suggest that cid underwent adaptive evolution after D. melanogaster and D. simulans diverged and, consequently, is not a speciation gene. (+info)
The Fanconi Anemia/BRCA signaling pathway: disruption in cisplatin-sensitive ovarian cancers. (6/873)Ovarian tumors often exhibit chromosome instability and hypersensitivity to the chemotherapeutic agent cisplatin. Recently, we have shown that this cellular phenotype may result from an acquired disruption of the Fanconi Anemia/BRCA (FA/BRCA) signaling pathway. Disruption results from methylation and silencing of one of the FA genes (FANCF), leading to cisplatin sensitivity. Restoration of this pathway is associated with demethylation of FANCF, leading to acquired cisplatinum resistance. The serial inactivation and reactivation of the FA/BRCA pathway has important implications for the diagnosis and treatment of ovarian cancers and related cancers. (+info)
Long-term global gene expression patterns in irradiated human lymphocytes. (7/873)Radiation-induced chromosomal instability has many features in common with genomic instability of cancer cells. In order to understand the delayed cellular response to ionizing radiation we have studied variations in the patterns of gene expression in primary human lymphocytes at various time points after gamma irradiation in vitro. Cells either exposed to 3 Gy of gamma rays in vitro or unexposed were subjected to long-term growth in bulk culture or as individual T-cell clones. Samples were taken at days 7, 17 or 55 from bulk cultures. The T-cell clones were harvested after 22-46 days. Total RNA was used to generate cDNA probes for hybridization to oligonucleotide arrays containing 12,625 gene templates (Affymetrix). The results showed that: (i) irradiation as well as culture time influence the gene expression patterns, (ii) the number of genes with increased or decreased expression in irradiated cells increases dramatically with increasing culture time, (iii) the changes of gene expression showed a significantly more diversified pattern in the irradiated T-cell clones than in non-irradiated clones. We conclude that the diversification of the transcriptome associated with radiation exposure reflects subtle changes of expression in many genes, rather than being the result of major changes in a few genes. Finally, (iv) we sorted out a set of genes whose change of expression correlates with radiation exposure in both bulk cultures and T-cell clones. Very few of these genes overlap with genes that change during the acute response to radiation. This set of genes may be regarded as a starting point for further studies of the cellular phenotype associated with radiation-induced genomic instability. (+info)
Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. (8/873)Expression of unstable translated CAG repeats is the mutational mechanism in nine different neurodegenerative disorders. Although the products of genes harboring these repeats are widely expressed, a subset of neurons is vulnerable in each disease accounting for the different phenotypes. Somatic instability of the expanded CAG repeat has been implicated as a factor mediating the selective striatal neurodegeneration in Huntington disease. It remains unknown, however, whether such a mechanism contributes to the selective neurodegeneration in other polyglutamine diseases or not. To address this question, we investigated the pattern of CAG repeat instability in a knock-in mouse model of spinocerebellar ataxia type 1 (SCA1). Small pool PCR analysis on DNA from various neuronal and non-neuronal tissues revealed that somatic repeat instability was most remarkable in the striatum. In the two vulnerable tissues, cerebellum and spinal cord, there were substantial differences in the profiles of mosaicism. These results suggest that in SCA1 there is no clear causal relationship between the degree of somatic instability and selective neuronal vulnerability. The finding that somatic instability is most pronounced in the striatum of various knock-in models of polyglutamine diseases highlights the role of trans-acting tissue- or cell-specific factors in mediating the instability. (+info)
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 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.
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.
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.
There are several types of joint instability, including:
1. Ligamentous laxity: A condition where the ligaments surrounding a joint become stretched or torn, leading to instability.
2. Capsular laxity: A condition where the capsule, a thin layer of connective tissue that surrounds a joint, becomes stretched or torn, leading to instability.
3. Muscular imbalance: A condition where the muscles surrounding a joint are either too weak or too strong, leading to instability.
4. Osteochondral defects: A condition where there is damage to the cartilage and bone within a joint, leading to instability.
5. Post-traumatic instability: A condition that develops after a traumatic injury to a joint, such as a dislocation or fracture.
Joint instability can be caused by various factors, including:
1. Trauma: A sudden and forceful injury to a joint, such as a fall or a blow.
2. Overuse: Repeated stress on a joint, such as from repetitive motion or sports activities.
3. Genetics: Some people may be born with joint instability due to inherited genetic factors.
4. Aging: As we age, our joints can become less stable due to wear and tear on the cartilage and other tissues.
5. Disease: Certain diseases, such as rheumatoid arthritis or osteoarthritis, can cause joint instability.
Symptoms of joint instability may include:
1. Pain: A sharp, aching pain in the affected joint, especially with movement.
2. Stiffness: Limited range of motion and stiffness in the affected joint.
3. Swelling: Swelling and inflammation in the affected joint.
4. Instability: A feeling of looseness or instability in the affected joint.
5. Crepitus: Grinding or crunching sensations in the affected joint.
Treatment for joint instability depends on the underlying cause and may include:
1. Rest and ice: Resting the affected joint and applying ice to reduce pain and swelling.
2. Physical therapy: Strengthening the surrounding muscles to support the joint and improve stability.
3. Bracing: Using a brace or splint to provide support and stability to the affected joint.
4. Medications: Anti-inflammatory medications, such as ibuprofen or naproxen, to reduce pain and inflammation.
5. Surgery: In severe cases, surgery may be necessary to repair or reconstruct the damaged tissues and improve joint stability.
MSI is a common feature of many types of cancer, including colorectal cancer, gastrointestinal cancers, and endometrial cancer. It is estimated that up to 15% of all cancers exhibit MSI, with the highest prevalence found in colon cancer (40-50%).
MSI can be caused by a variety of genetic mutations, including defects in DNA repair genes such as MLH1 and MSH2, which are involved in the repair of microsatellites. Other causes of MSI include defects in the proofreading mechanism of DNA replication and the absence of the protein that corrects errors during DNA replication.
The significance of MSI in cancer is that it can be used as a biomarker for predicting the response of cancer cells to immunotherapy, such as checkpoint inhibitors. Cancer cells that exhibit MSI are more likely to respond to these therapies and have a better prognosis compared to those that do not exhibit MSI. Additionally, MSI can be used as a predictive biomarker for the presence of Lynch syndrome, an inherited condition that increases the risk of developing colorectal cancer and other cancers.
Overall, the study of microsatellite instability is an important area of cancer research, as it can provide valuable insights into the mechanisms of cancer development and progression, and may lead to the development of new diagnostic and therapeutic strategies for cancer treatment.
There are several types of chromosome fragility, including:
1. Fragile X syndrome: This is the most common form of chromosome fragility and is caused by an expansion of a CGG repeat in the FMR1 gene on the X chromosome. It is associated with intellectual disability, behavioral problems, and physical characteristics such as large ears and long faces.
2. Turner syndrome: This is a condition where one X chromosome is missing or partially deleted, leading to short stature, infertility, and other developmental delays.
3. Klinefelter syndrome: This is a condition where an individual has an extra X chromosome, leading to tall stature, small testes, and infertility.
4. Trisomy 13 and trisomy 18: These are conditions where there is an extra copy of chromosomes 13 or 18, leading to developmental delays and other physical and intellectual disabilities.
5. Chromosome breakage syndromes: These are conditions where there is a defect in the chromosome that increases the risk of breakage during cell division, leading to aneuploidy or structural changes. Examples include ataxia-telangiectasia and Nijmegen breakage syndrome.
Chromosome fragility can be diagnosed through a variety of methods, including karyotyping, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). Treatment for chromosome fragility depends on the specific condition and may include medication, surgery, or other interventions.
When a chromosome breaks, it can lead to genetic instability and potentially contribute to the development of diseases such as cancer. Chromosome breakage can also result in the loss or gain of genetic material, which can further disrupt normal cellular function and increase the risk of disease.
There are several types of chromosome breakage, including:
1. Chromosomal aberrations: These occur when there is a change in the number or structure of the chromosomes, such as an extra copy of a chromosome (aneuploidy) or a break in a chromosome.
2. Genomic instability: This refers to the presence of errors in the genetic material that can lead to changes in the function of cells and tissues.
3. Chromosomal fragile sites: These are specific regions of the chromosomes that are more prone to breakage than other regions.
4. Telomere shortening: Telomeres are the protective caps at the ends of the chromosomes, and their shortening can lead to chromosome breakage and genetic instability.
Chromosome breakage can be detected through cytogenetic analysis, which involves staining the cells with dyes to visualize the chromosomes and look for any abnormalities. The detection of chromosome breakage can help diagnose certain diseases, such as cancer, and can also provide information about the risk of disease progression.
In summary, chromosome breakage is a type of genetic alteration that can occur as a result of various factors, including exposure to radiation or chemicals, errors during cell division, or aging. It can lead to genetic instability and increase the risk of diseases such as cancer. Detection of chromosome breakage through cytogenetic analysis can help diagnose certain diseases and provide information about the risk of disease progression.
There are currently no cures for Fanconi anemia, but bone marrow transplantation and other supportive therapies can help manage some of the symptoms and improve quality of life. Research into the genetics and molecular biology of Fanconi anemia is ongoing to better understand the disorder and develop new treatments.
Some of the common symptoms of Fanconi anemia include short stature, limb deformities, hearing loss, vision problems, and an increased risk of infections and cancer. Children with Fanconi anemia may also experience developmental delays, learning disabilities, and social and emotional challenges.
The diagnosis of Fanconi anemia is typically made based on a combination of clinical findings, laboratory tests, and genetic analysis. Treatment options for Fanconi anemia depend on the severity of the disorder and may include bone marrow transplantation, blood transfusions, antibiotics, and other supportive therapies.
Fanconi anemia is a rare disorder that affects approximately 1 in 160,000 births worldwide. It is more common in certain populations, such as Ashkenazi Jews and individuals of Spanish descent. Fanconi anemia can be inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated gene (one from each parent) to develop the disorder.
Overall, Fanconi anemia is a complex and rare genetic disorder that requires specialized medical care and ongoing research to better understand its causes and develop effective treatments. With appropriate management and supportive therapies, individuals with Fanconi anemia can lead fulfilling lives despite the challenges associated with the disorder.
The main symptoms of NBS include:
* Microcephaly (a small head)
* Growth retardation
* Immune deficiency
* Neurological problems, such as seizures and developmental delays
* Skeletal abnormalities, such as short limbs and joint deformities
* Skin changes, such as a wrinkled appearance and increased risk of skin cancer
NBS is usually diagnosed through genetic testing, and treatment is focused on managing the symptoms and preventing complications. This may include physical therapy to improve mobility and strength, medication to control seizures, and antibiotics to prevent infections. In some cases, bone marrow transplantation may be recommended to restore immune function.
The prognosis for NBS is generally poor, with many individuals experiencing significant disability and a shortened lifespan. However, with appropriate medical care and support, some individuals with NBS can lead relatively normal 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.
The symptoms of Amniotic Band Syndrome can vary depending on the severity of the entanglement and the location of the bands on the body. Common physical abnormalities include:
* Limb defects, such as clubfoot, missing digits, or webbed fingers and toes
* Skin bridges or flaps
* Craniofacial abnormalities, such as cleft lip or palate
* Gastrointestinal malformations, such as intestinal atresia or stenosis
* Heart defects, such as ventricular septal defect
* Urinary tract abnormalities, such as bladder exstrophy or hypospadias
The cause of Amniotic Band Syndrome is not well understood, but it is thought to occur when the amniotic membrane ruptures and the fetus becomes entangled in the resulting bands. The condition can be diagnosed during pregnancy through ultrasound examination, and after birth through physical examination and imaging studies.
There is no standard treatment for Amniotic Band Syndrome, as the severity of the condition and the specific abnormalities present vary widely from case to case. Treatment may include surgery to correct physical abnormalities, as well as supportive care to manage developmental delays and other complications. The prognosis for children with Amniotic Band Syndrome varies depending on the severity of the condition and the specific abnormalities present, but in general, the condition can have a significant impact on the child's quality of life and long-term outlook.
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
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The causes of colorectal neoplasms are not fully understood, but factors such as age, genetics, diet, and lifestyle have been implicated. Symptoms of colorectal cancer can include changes in bowel habits, blood in the stool, abdominal pain, and weight loss. Screening for colorectal cancer is recommended for adults over the age of 50, as it can help detect early-stage tumors and improve survival rates.
There are several subtypes of colorectal neoplasms, including adenomas (which are precancerous polyps), carcinomas (which are malignant tumors), and lymphomas (which are cancers of the immune system). Treatment options for colorectal cancer depend on the stage and location of the tumor, but may include surgery, chemotherapy, radiation therapy, or a combination of these.
Research into the causes and treatment of colorectal neoplasms is ongoing, and there has been significant progress in recent years. Advances in screening and treatment have improved survival rates for patients with colorectal cancer, and there is hope that continued research will lead to even more effective treatments in the future.
Bloom syndrome is a rare genetic disorder that affects approximately 1 in 100,000 individuals worldwide. It is caused by a mutation in the BLM gene, which codes for the Bloom syndrome protein (BLM). This protein plays a crucial role in the repair of DNA double-strand breaks and other types of genetic damage.
Individuals with Bloom syndrome typically have short stature, small head size, and delicate features. They may also experience a range of health problems, including:
1. Increased risk of cancer: People with Bloom syndrome have an increased risk of developing various types of cancer, such as ovarian, breast, skin, and colon cancer.
2. Immune system problems: Individuals with Bloom syndrome may experience immune deficiency and autoimmune disorders, such as allergies and lupus.
3. Infertility: Many people with Bloom syndrome experience infertility or have difficulty conceiving.
4. Developmental delays: Children with Bloom syndrome may experience delayed development, including speech and language difficulties.
5. Skin changes: Individuals with Bloom syndrome may develop skin changes, such as thinning of the skin, easy bruising, and an increased risk of skin cancer.
6. Eye problems: Bloom syndrome can cause a range of eye problems, including cataracts, glaucoma, and detached retinas.
7. Increased risk of infections: People with Bloom syndrome may be more susceptible to infections due to their weakened immune system.
8. Other health problems: Individuals with Bloom syndrome may experience other health issues, such as hearing loss, kidney disease, and gastrointestinal problems.
Bloom syndrome can be diagnosed through a combination of clinical evaluation, family history, and genetic testing. Genetic testing can identify the presence of the BLM mutation that causes the disorder. Prenatal testing is also available for pregnant women who have a family history of Bloom syndrome.
There is no cure for Bloom syndrome, but treatment can help manage the symptoms and prevent complications. Treatment options may include:
1. Skin cancer screening and prevention: Regular skin exams can help detect skin cancer at an early stage, and preventive measures such as avoiding excessive sun exposure and using protective clothing and sunscreen can reduce the risk of skin cancer.
2. Eye care: Regular eye exams can help detect eye problems early, and prompt treatment can prevent vision loss.
3. Immune system support: Individuals with Bloom syndrome may be at increased risk of infections, so it's important to take steps to support the immune system, such as getting vaccinated against common illnesses and practicing good hygiene.
4. Developmental support: Children with Bloom syndrome may require extra support in school and at home to help them reach their full potential.
5. Managing other health problems: Depending on the specific health issues experienced by an individual with Bloom syndrome, treatment may involve medication, lifestyle changes, or other interventions to manage these conditions.
The prognosis for individuals with Bloom syndrome varies depending on the specific health problems they experience. Some individuals may have a relatively mild course of the condition, while others may experience more severe health issues. With appropriate medical care and support, many individuals with Bloom syndrome can lead fulfilling lives. However, the condition can be associated with a shorter life expectancy compared to the general population.
There are several lifestyle changes that can help manage the symptoms of Bloom syndrome and improve overall health. These may include:
1. Protecting the skin from the sun: Avoid excessive sun exposure, especially during peak hours, and use protective clothing and sunscreen to prevent skin damage.
2. Eating a healthy diet: A balanced diet that includes plenty of fruits, vegetables, whole grains, and lean protein can help support overall health.
3. Staying hydrated: Drinking plenty of water can help prevent dehydration, which can be a common issue for individuals with Bloom syndrome.
4. Avoiding smoking and excessive alcohol consumption: Both smoking and excessive alcohol consumption can worsen the symptoms of Bloom syndrome and increase the risk of certain health problems.
5. Getting regular exercise: Regular physical activity can help improve overall health and reduce the risk of certain health problems.
6. Managing stress: Stress can exacerbate the symptoms of Bloom syndrome, so it's important to find healthy ways to manage stress, such as through relaxation techniques or therapy.
7. Getting enough sleep: Adequate sleep is essential for overall health and well-being, and can help reduce the risk of certain health problems.
8. Avoiding exposure to toxins: Individuals with Bloom syndrome may be more susceptible to the effects of toxins, so it's important to avoid exposure to chemicals and other toxins whenever possible.
9. Keeping up-to-date on medical care: Regular check-ups with a healthcare provider can help identify any health issues early on and prevent complications.
There are several support groups and organizations that provide information, resources, and support for individuals with Bloom syndrome and their families. These include:
1. The National Organization for Rare Disorders (NORD) - Provides information and resources on rare diseases, including Bloom syndrome.
2. The Bloom Syndrome Foundation - A non-profit organization dedicated to supporting research and providing information and resources for individuals with Bloom syndrome and their families.
3. The Rare Disease United Foundation - Provides information and resources on rare diseases, including Bloom syndrome, as well as support for individuals and families affected by these conditions.
There are several online resources available to help individuals with Bloom syndrome and their families learn more about the condition, connect with others, and find support. These include:
1. The National Organization for Rare Disorders (NORD) - Provides information and resources on rare diseases, including Bloom syndrome, as well as a directory of healthcare providers and researchers.
2. The Bloom Syndrome Foundation - Offers information and resources on Bloom syndrome, as well as a registry for individuals with the condition to connect with others and receive updates on research and treatments.
3. Rare Disease United - Provides information and resources on rare diseases, including Bloom syndrome, as well as a directory of support groups and advocacy organizations.
4. The Global Bloom Syndrome Registry - A registry for individuals with Bloom syndrome to connect with others and receive updates on research and treatments.
5. The Bloom Syndrome Community - A Facebook group for individuals with Bloom syndrome and their families to connect, share information, and support one another.
These online resources can provide valuable information and support for individuals with Bloom syndrome and their families. It is important to note that while these resources can be helpful, they should not replace the advice of a qualified healthcare professional.
The presence of chromosome-defective micronuclei in cells can be an indication of genetic damage and may be used as a diagnostic marker for certain diseases or conditions, such as cancer or exposure to toxic substances. The frequency and distribution of these structures within a cell population can also provide information about the type and severity of genetic damage present.
In contrast to other types of micronuclei, which are typically smaller and less complex, chromosome-defective micronuclei are larger and more irregular in shape, and may contain fragmented or abnormal chromatin material. They can also be distinguished from other types of micronuclei by their specific staining properties and the presence of certain structural features, such as the presence of nucleoli or the absence of a membrane boundary.
Overall, the study of chromosome-defective micronuclei is an important tool for understanding the mechanisms of genetic damage and disease, and may have practical applications in fields such as cancer diagnosis and environmental health assessment.
The hallmark symptoms of AT are:
1. Ataxia: difficulty with coordination, balance, and gait.
2. Telangiectasias: small, red blood vessels visible on the skin, particularly on the face, neck, and arms.
3. Ocular telangiectasias: small, red blood vessels visible in the eyes.
4. Cognitive decline: difficulty with memory, learning, and concentration.
5. Seizures: episodes of abnormal electrical activity in the brain.
6. Increased risk of cancer: particularly lymphoma, myeloid leukemia, and breast cancer.
The exact cause of AT is not yet fully understood, but it is thought to be due to mutations in the ATM gene, which is involved in DNA damage response and repair. There is currently no cure for AT, but various treatments are available to manage its symptoms and prevent complications. These may include:
1. Physical therapy: to improve coordination and balance.
2. Occupational therapy: to assist with daily activities and fine motor skills.
3. Speech therapy: to improve communication and swallowing difficulties.
4. Medications: to control seizures, tremors, and other symptoms.
5. Cancer screening: regular monitoring for the development of cancer.
AT is a rare disorder, and it is estimated that only about 1 in 40,000 to 1 in 100,000 individuals are affected worldwide. It is important for healthcare providers to be aware of AT and its symptoms, as early diagnosis and intervention can improve outcomes for patients with this condition.
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
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.
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.
* Genetic mutations or chromosomal abnormalities
* Infections during pregnancy, such as rubella or toxoplasmosis
* Exposure to certain medications or chemicals during pregnancy
* Maternal malnutrition or poor nutrition during pregnancy
* Certain medical conditions, such as hypothyroidism or anemia.
Microcephaly can be diagnosed by measuring the baby's head circumference and comparing it to established norms for their age and gender. Other signs of microcephaly may include:
* A small, misshapen head
* Small eyes and ears
* Developmental delays or intellectual disability
* Seizures or other neurological problems
* Difficulty feeding or sucking
There is no cure for microcephaly, but early diagnosis and intervention can help manage the associated symptoms and improve quality of life. Treatment may include:
* Monitoring growth and development
* Physical therapy to improve muscle tone and coordination
* Occupational therapy to develop fine motor skills and coordination
* Speech therapy to improve communication skills
* Medication to control seizures or other neurological problems.
In some cases, microcephaly may be associated with other medical conditions, such as intellectual disability, autism, or vision or hearing loss. It is important for individuals with microcephaly to receive regular monitoring and care from a team of healthcare professionals to address any related medical issues.
https://www.medicinenet.com › Medical Dictionary › G
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
Genetic Translocation | Definition & Facts | Britannica
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Genetic translocation, also called chromosomal translocation, a type of chromosomal aberration in which a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material. Genetic translocations are often found in cancer cells and may play a role in the development and progression of cancer.
Translocation, Genetic | health Encyclopedia - UPMC
https://www.upmc.com › health-library › gene...
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
Genetic Translocation | Genetics Home Reference - NIH
https://ghr.nlm.nih.gov › condition › ge...
A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.
In conclusion, Genetic Translocation is an abnormality in the number or arrangement of chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome, resulting in a gain or loss of genetic material that can have significant effects on the individual.
There are several types of gonadal disorders, including:
1. Hypogonadism: This is a condition in which the gonads do not produce enough sex hormones, leading to symptoms such as low libido, erectile dysfunction, and infertility.
2. Hypergonadism: This is a condition in which the gonads produce too much of one or both of the sex hormones, leading to symptoms such as excessive hair growth, acne, and irregular menstrual cycles.
3. Ovarian disorders: These include conditions such as polycystic ovary syndrome (PCOS), which can cause irregular menstrual cycles, cysts on the ovaries, and infertility. Other ovarian disorders include endometriosis and pelvic inflammatory disease.
4. Testicular disorders: These include conditions such as testicular torsion, which is a twisting of the testicle that can cut off blood flow and cause damage to the testicle, and varicocele, which is a swelling of the veins in the scrotum.
5. Gonadal dysgenesis: This is a condition in which the gonads do not develop properly, leading to infertility, ambiguous genitalia, and other symptoms.
6. Premature ovarian failure: This is a condition in which the ovaries stop functioning before the age of 40, leading to premature menopause and infertility.
7. Primary ovarian insufficiency: This is a condition in which the ovaries stop functioning before the age of 40, leading to premature menopause and infertility.
8. Ovary tumors: These are abnormal growths on the ovary that can cause symptoms such as pelvic pain, irregular menstrual cycles, and infertility.
9. Testicular tumors: These are abnormal growths on the testicle that can cause symptoms such as testicular pain, swelling, and infertility.
10. Epididymitis: This is an inflammation of the epididymis, a tube that runs along the back of the testicle and stores sperm. It can cause symptoms such as scrotal pain, swelling, and fever.
11. Orchitis: This is an inflammation of the testicle that can be caused by a virus or bacteria. It can cause symptoms such as scrotal pain, swelling, and fever.
12. Proctitis: This is an inflammation of the rectum and anus that can be caused by a viral or bacterial infection. It can cause symptoms such as rectal pain, bleeding, and discharge.
13. Rectocele: This is a bulge of the rectum into the vagina that can cause symptoms such as rectal pressure, pain during sex, and difficulty with bowel movements.
14. Cystoceles: These are bulges of the bladder into the vagina that can cause symptoms such as bladder pressure, pain during sex, and difficulty with urination.
15. Uterine prolapse: This is a condition in which the uterus drops down into the vagina and can cause symptoms such as vaginal bulging, pain during sex, and difficulty with bowel movements.
It's important to note that this is not an exhaustive list and there may be other causes of pelvic pain. If you are experiencing persistent or severe pelvic pain, it's important to see a healthcare provider for a proper evaluation and diagnosis.
Tetraploidy can be caused by various factors such as:
1. Polyploidy: This is a condition where an individual has more than two sets of chromosomes, including tetraploidy.
2. Chromosomal abnormalities: Such as aneuploidy, where there is an extra or missing copy of a specific chromosome.
3. Genetic disorders: Such as Down syndrome, which is caused by an extra copy of chromosome 21.
4. Environmental factors: Exposure to certain chemicals or radiation can increase the risk of tetraploidy.
Symptoms of tetraploidy can vary depending on the severity of the condition and may include:
1. Growth delays: Children with tetraploidy may experience slowed growth and development.
2. Intellectual disability: Some individuals with tetraploidy may have cognitive impairments and learning difficulties.
3. Physical abnormalities: Tetraploidy can result in a variety of physical characteristics, such as short stature, thinning hair, and distinctive facial features.
4. Increased risk of health problems: Individuals with tetraploidy may be more susceptible to certain health issues, such as heart defects, hearing loss, and vision problems.
Diagnosis of tetraploidy is typically made through chromosomal analysis, which can be performed on a blood or tissue sample. Treatment for tetraploidy is not always necessary, but may include:
1. Monitoring growth and development: Regular check-ups with a healthcare provider can help track the child's growth and development.
2. Speech and language therapy: Children with tetraploidy may benefit from speech and language therapy to address any communication difficulties.
3. Occupational therapy: Individuals with tetraploidy may need occupational therapy to help them develop skills and abilities.
4. Medication: In some cases, medication may be prescribed to manage associated health problems, such as heart defects or seizures.
It is important to note that every individual with tetraploidy is unique and may have a different experience and outcome. With appropriate medical care and support, many individuals with tetraploidy can lead fulfilling lives.
The features of gonadal dysgenesis, 46,XX include:
1. Short stature: Individuals with this condition are typically shorter than their peers and may have a slowed growth rate.
2. Infertility: Women with Turner syndrome are usually infertile due to the absence or defect of ovarian tissue.
3. Cardiovascular abnormalities: Some individuals with Turner syndrome may have heart defects, such as narrowing of the aorta or bicuspid aortic valve.
4. Thyroid problems: Turner syndrome is associated with an increased risk of thyroid problems, including hypothyroidism.
5. Craniofacial abnormalities: Some individuals with Turner syndrome may have distinctive facial features, such as a narrow forehead, wide-set eyes, and a small jaw.
6. Learning disabilities: Children with Turner syndrome may experience learning delays and learning disabilities.
7. Hearing loss: Some individuals with Turner syndrome may have hearing loss or ear abnormalities.
8. Other health problems: Turner syndrome is also associated with an increased risk of other health problems, such as osteoporosis, joint pain, and gastrointestinal issues.
The term "gonadal dysgenesis" refers to the abnormal development of the gonads (ovaries or testes), which can result in infertility or other reproductive problems. In the case of Turner syndrome, the ovaries are affected, leading to female infertility and other characteristic features.
There are several types of colonic neoplasms, including:
1. Adenomas: These are benign growths that are usually precursors to colorectal cancer.
2. Carcinomas: These are malignant tumors that arise from the epithelial lining of the colon.
3. Sarcomas: These are rare malignant tumors that arise from the connective tissue of the colon.
4. Lymphomas: These are cancers of the immune system that can affect the colon.
Colonic neoplasms can cause a variety of symptoms, including bleeding, abdominal pain, and changes in bowel habits. They are often diagnosed through a combination of medical imaging tests (such as colonoscopy or CT scan) and biopsy. Treatment for colonic neoplasms depends on the type and stage of the tumor, and may include surgery, chemotherapy, and/or radiation therapy.
Overall, colonic neoplasms are a common condition that can have serious consequences if left untreated. It is important for individuals to be aware of their risk factors and to undergo regular screening for colon cancer to help detect and treat any abnormal growths or tumors in the colon.
Examples of precancerous conditions include:
1. Dysplasia: This is a condition where abnormal cells are present in the tissue, but have not yet invaded surrounding tissues. Dysplasia can be found in organs such as the cervix, colon, and breast.
2. Carcinoma in situ (CIS): This is a condition where cancer cells are present in the tissue, but have not yet invaded surrounding tissues. CIS is often found in organs such as the breast, prostate, and cervix.
3. Atypical hyperplasia: This is a condition where abnormal cells are present in the tissue, but they are not yet cancerous. Atypical hyperplasia can be found in organs such as the breast and uterus.
4. Lobular carcinoma in situ (LCIS): This is a condition where cancer cells are present in the milk-producing glands of the breasts, but have not yet invaded surrounding tissues. LCIS is often found in both breasts and can increase the risk of developing breast cancer.
5. Adenomas: These are small growths on the surface of the colon that can become malignant over time if left untreated.
6. Leukoplakia: This is a condition where thick, white patches develop on the tongue or inside the mouth. Leukoplakia can be a precancerous condition and may increase the risk of developing oral cancer.
7. Oral subsquamous carcinoma: This is a type of precancerous lesion that develops in the mouth and can progress to squamous cell carcinoma if left untreated.
8. Cervical intraepithelial neoplasia (CIN): This is a condition where abnormal cells are present on the surface of the cervix, but have not yet invaded surrounding tissues. CIN can progress to cancer over time if left untreated.
9. Vulvar intraepithelial neoplasia (VIN): This is a condition where abnormal cells are present on the vulva, but have not yet invaded surrounding tissues. VIN can progress to cancer over time if left untreated.
10. Penile intraepithelial neoplasia (PIN): This is a condition where abnormal cells are present on the penis, but have not yet invaded surrounding tissues. PIN can progress to cancer over time if left untreated.
It is important to note that not all precancerous conditions will develop into cancer, and some may resolve on their own without treatment. However, it is important to follow up with a healthcare provider to monitor any changes and determine the best course of treatment.
Some common effects of chromosomal deletions include:
1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.
Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.
Examples of syndromes include:
1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.
Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.
There are different types of Breast Neoplasms such as:
1. Fibroadenomas: These are benign tumors that are made up of glandular and fibrous tissues. They are usually small and round, with a smooth surface, and can be moved easily under the skin.
2. Cysts: These are fluid-filled sacs that can develop in both breast tissue and milk ducts. They are usually benign and can disappear on their own or be drained surgically.
3. Ductal Carcinoma In Situ (DCIS): This is a precancerous condition where abnormal cells grow inside the milk ducts. If left untreated, it can progress to invasive breast cancer.
4. Invasive Ductal Carcinoma (IDC): This is the most common type of breast cancer and starts in the milk ducts but grows out of them and invades surrounding tissue.
5. Invasive Lobular Carcinoma (ILC): It originates in the milk-producing glands (lobules) and grows out of them, invading nearby tissue.
Breast Neoplasms can cause various symptoms such as a lump or thickening in the breast or underarm area, skin changes like redness or dimpling, change in size or shape of one or both breasts, discharge from the nipple, and changes in the texture or color of the skin.
Treatment options for Breast Neoplasms may include surgery such as lumpectomy, mastectomy, or breast-conserving surgery, radiation therapy which uses high-energy beams to kill cancer cells, chemotherapy using drugs to kill cancer cells, targeted therapy which uses drugs or other substances to identify and attack cancer cells while minimizing harm to normal cells, hormone therapy, immunotherapy, and clinical trials.
It is important to note that not all Breast Neoplasms are cancerous; some are benign (non-cancerous) tumors that do not spread or grow.
Disease progression can be classified into several types based on the pattern of worsening:
1. Chronic progressive disease: In this type, the disease worsens steadily over time, with a gradual increase in symptoms and decline in function. Examples include rheumatoid arthritis, osteoarthritis, and Parkinson's disease.
2. Acute progressive disease: This type of disease worsens rapidly over a short period, often followed by periods of stability. Examples include sepsis, acute myocardial infarction (heart attack), and stroke.
3. Cyclical disease: In this type, the disease follows a cycle of worsening and improvement, with periodic exacerbations and remissions. Examples include multiple sclerosis, lupus, and rheumatoid arthritis.
4. Recurrent disease: This type is characterized by episodes of worsening followed by periods of recovery. Examples include migraine headaches, asthma, and appendicitis.
5. Catastrophic disease: In this type, the disease progresses rapidly and unpredictably, with a poor prognosis. Examples include cancer, AIDS, and organ failure.
Disease progression can be influenced by various factors, including:
1. Genetics: Some diseases are inherited and may have a predetermined course of progression.
2. Lifestyle: Factors such as smoking, lack of exercise, and poor diet can contribute to disease progression.
3. Environmental factors: Exposure to toxins, allergens, and other environmental stressors can influence disease progression.
4. Medical treatment: The effectiveness of medical treatment can impact disease progression, either by slowing or halting the disease process or by causing unintended side effects.
5. Co-morbidities: The presence of multiple diseases or conditions can interact and affect each other's progression.
Understanding the type and factors influencing disease progression is essential for developing effective treatment plans and improving patient outcomes.
Adenomas are caused by genetic mutations that occur in the DNA of the affected cells. These mutations can be inherited or acquired through exposure to environmental factors such as tobacco smoke, radiation, or certain chemicals.
The symptoms of an adenoma can vary depending on its location and size. In general, they may include abdominal pain, bleeding, or changes in bowel movements. If the adenoma becomes large enough, it can obstruct the normal functioning of the affected organ or cause a blockage that can lead to severe health complications.
Adenomas are usually diagnosed through endoscopy, which involves inserting a flexible tube with a camera into the affected organ to visualize the inside. Biopsies may also be taken to confirm the presence of cancerous cells.
Treatment for adenomas depends on their size, location, and severity. Small, non-pedunculated adenomas can often be removed during endoscopy through a procedure called endoscopic mucosal resection (EMR). Larger adenomas may require surgical resection, and in some cases, chemotherapy or radiation therapy may also be necessary.
In summary, adenoma is a type of benign tumor that can occur in glandular tissue throughout the body. While they are not cancerous, they have the potential to become malignant over time if left untreated. Therefore, it is important to seek medical attention if symptoms persist or worsen over time. Early detection and treatment can help prevent complications and improve outcomes for patients with adenomas.
Adenocarcinoma is a term used to describe a variety of different types of cancer that arise in glandular tissue, including:
1. Colorectal adenocarcinoma (cancer of the colon or rectum)
2. Breast adenocarcinoma (cancer of the breast)
3. Prostate adenocarcinoma (cancer of the prostate gland)
4. Pancreatic adenocarcinoma (cancer of the pancreas)
5. Lung adenocarcinoma (cancer of the lung)
6. Thyroid adenocarcinoma (cancer of the thyroid gland)
7. Skin adenocarcinoma (cancer of the skin)
The symptoms of adenocarcinoma depend on the location of the cancer and can include:
1. Blood in the stool or urine
2. Abdominal pain or discomfort
3. Changes in bowel habits
4. Unusual vaginal bleeding (in the case of endometrial adenocarcinoma)
5. A lump or thickening in the breast or elsewhere
6. Weight loss
8. Coughing up blood (in the case of lung adenocarcinoma)
The diagnosis of adenocarcinoma is typically made through a combination of imaging tests, such as CT scans, MRI scans, and PET scans, and a biopsy, which involves removing a sample of tissue from the affected area and examining it under a microscope for cancer cells.
Treatment options for adenocarcinoma depend on the location of the cancer and can include:
1. Surgery to remove the tumor
2. Chemotherapy, which involves using drugs to kill cancer cells
3. Radiation therapy, which involves using high-energy X-rays or other particles to kill cancer cells
4. Targeted therapy, which involves using drugs that target specific molecules on cancer cells to kill them
5. Immunotherapy, which involves using drugs that stimulate the immune system to fight cancer cells.
The prognosis for adenocarcinoma is generally good if the cancer is detected and treated early, but it can be more challenging to treat if the cancer has spread to other parts of the body.
There are several types of lymphoma, including:
1. Hodgkin lymphoma: This is a type of lymphoma that originates in the white blood cells called Reed-Sternberg cells. It is characterized by the presence of giant cells with multiple nucleoli.
2. Non-Hodgkin lymphoma (NHL): This is a type of lymphoma that does not meet the criteria for Hodgkin lymphoma. There are many subtypes of NHL, each with its own unique characteristics and behaviors.
3. Cutaneous lymphoma: This type of lymphoma affects the skin and can take several forms, including cutaneous B-cell lymphoma and cutaneous T-cell lymphoma.
4. Primary central nervous system (CNS) lymphoma: This is a rare type of lymphoma that develops in the brain or spinal cord.
5. Post-transplantation lymphoproliferative disorder (PTLD): This is a type of lymphoma that develops in people who have undergone an organ transplant, often as a result of immunosuppressive therapy.
The symptoms of lymphoma can vary depending on the type and location of the cancer. Some common symptoms include:
* Swollen lymph nodes
* Weight loss
* Night sweats
Lymphoma is diagnosed through a combination of physical examination, imaging tests (such as CT scans or PET scans), and biopsies. Treatment options for lymphoma depend on the type and stage of the cancer, and may include chemotherapy, radiation therapy, immunotherapy, or stem cell transplantation.
Overall, lymphoma is a complex and diverse group of cancers that can affect people of all ages and backgrounds. While it can be challenging to diagnose and treat, advances in medical technology and research have improved the outlook for many patients with lymphoma.
Radiobiology evidence for protons and HZE nuclei
Chromosomal fragile site
Netrin receptor DCC
Simon N. Powell
Nijmegen breakage syndrome
Primary ovarian insufficiency
Chromosome instability syndrome
List of diseases (C)
Fluorescence in situ hybridization
Primary effusion lymphoma
Telomeric repeat-binding factor 2
Embryonal fyn-associated substrate
List of skin conditions
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- The research projects proposed in this SPORE address genomic instability in breast cancer. (mskcc.org)
- Our ultimate plan is to exploit tumor-specific vulnerabilities by virtue of their underlying genomic instability. (mskcc.org)
- These profiles of genomic instability have offered novel insights about the drivers of breast cancer development and progression. (mskcc.org)
- The main goals of the Rao laboratory are to identify oncogenes from the amplified chromosomal regions and the role of genomic instability in osteosarcoma (OS). (texaschildrens.org)
- Osteosarcoma is the most frequent bone neoplasm in children and often present with a high number of chromosomal amplifications and deletions, suggesting that genomic instability is linked to tumor development. (texaschildrens.org)
- The goal of the laboratory is to investigate the role of CDC5L in the development of genomic instability and progression of osteosarcoma by overexpressing CDC5L cDNA and down-regulating by SiRNA in normal osteoblasts. (texaschildrens.org)
- Histological pre-neoplastic changes genomic instability and development that might progress into gastric cancer of cancer in human aged cells by are found in around 50% of people limiting the number of cell divisions. (who.int)
- Dhital, B & Rodriguez-Bravo, V 2023, ' Mechanisms of chromosomal instability (CIN) tolerance in aggressive tumors: surviving the genomic chaos ', Chromosome Research , vol. 31, no. 2, 15. (elsevier.com)
- Chromosome instability (CIN) is the most common form of genome instability and is a hallmark of cancer. (nature.com)
- However, so far, there has not been a framework to interpret the larger, more complex patterns of genetic changes seen in chromosome instability in the same way. (cam.ac.uk)
- The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 14. (medlineplus.gov)
- Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14 or r(14). (medlineplus.gov)
- Alternately, seizures might result from instability of the ring chromosome in some cells. (medlineplus.gov)
- A breakdown in this process causes chromosome instability. (lbl.gov)
- To determine if centromeres play a role in chromosome instability in human cancers, the researchers analyzed many public datasets from the National Center for Biotechnology Information, the Broad Institute and other organizations that together contained thousands of human clinical tumor samples from at least a dozen types of cancers. (lbl.gov)
- 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)
- Her lab also demonstrated how aneuploidy drives genome instability and mutagenesis. (volastratx.com)
- Gross chromosomal arrangements (GCRs) are hall markers of cancer cells, and DNA double-stand breaks (DSBs) are the major cause of cancer-associated genome instability. (scripps.edu)
- Unrepaired DSBs can lead to chromosomal breakage and cell death, while incorrectly repaired DSBs would lead to genome instability. (scripps.edu)
- Our research focuses on characterising and understanding the mechanisms through which RNA transcription induces genome instability, and how the cells react to this problem. (birmingham.ac.uk)
- However, at the same time RNA Pol II transcription is associated with increased genome instability, both increased mutational rates and chromosomal rearrangements. (birmingham.ac.uk)
- However, for most of these factors, we do not know how exactly they affect RNA Pol II transcription, and consequently, how they are inducing genome instability. (birmingham.ac.uk)
- We use a combination of genome wide approaches, couple with functional studies and microscopy, to understand how these transcription-associated factors support RNA Pol II transcription, and how genome instability arises in their absence. (birmingham.ac.uk)
- We are also interested in understanding the impact of transcription-induced genome instability in human health, with a particular, but not exclusive, focus on carcinogenesis. (birmingham.ac.uk)
- Fanconi Anemia is a recessive and rare genetic disorder, characterized by chromosomal instability that induces congenital alterations in individuals. (bvsalud.org)
- By depleting different Spindle Assembly Checkpoint (SAC) genes in the epithelial cells, we induce chromosomal instability and generate aneuploidy. (ub.edu)
- We have established novel EGFP-based DSB repair assays and chromosomal translocation mouse models to investigate the mechanisms underlying DSB repair and chromosomal rearrangement. (scripps.edu)
- Researchers at NYU School of Medicine have discovered the cellular mechanisms that normally generate chromosomal breaks in bacteria such as E. coli. (phys.org)
- However, too much of a good thing may come at a high cost for tumor cells as excessive degree of CIN-induced chromosomal aberrations can be detrimental for cancer cell survival and proliferation. (elsevier.com)
- Three areas are the focus of study: homologous recombination deficiency, chromosomal instability, and APOBEC mutagenesis. (mskcc.org)
- So overexpression of these genes may be a major contributing factor to chromosomal instability, which is a hallmark of all cancers. (lbl.gov)
- Chromosomal instability (CIN) is a major characteristic of many cancers. (nih.gov)
- Chromosomal instability (CIN) is a pervasive feature of human cancers involved in tumor initiation and progression and which is found elevated in metastatic stages. (elsevier.com)
- Now, for the first time, scientists at the University of Cambridge and the National Cancer Research Center, Madrid, have published a robust framework to allow them to analyse chromosomal instability in human cancers. (cam.ac.uk)
- This is tragically clear from the very low survival rates for cancers that arise as a result of chromosomal instability. (cam.ac.uk)
- Dr Florian Markowetz and colleagues investigated patterns of chromosomal instability across 7,880 tumours, representing 33 types of cancer, such as liver and lung cancer, from The Cancer Genome Atlas. (cam.ac.uk)
- This generates a repertoire of genetically diverse cells with structural chromosomal abnormalities that can either continue proliferating or stop dividing. (nature.com)
- Chromosomal instability is a common feature of cancer, occurring in around 80% of tumours, but this jumble of fragments can be difficult to read, making it hard to understand exactly what types or 'patterns' of instability are present in any given tumour. (cam.ac.uk)
- 2014. Patterns of chromosomal variation in natural populations of the neoallotetraploid Tragopogon mirus (Asteraceae). (ufl.edu)
- This chromosomal instability has long been recognized as a characteristic of cancer, but its cause has remained unclear. (lbl.gov)
- As such, understanding and treating chromosomal instability is central to improving the outcomes for millions of cancer patients worldwide. (cam.ac.uk)
- Cytological studies have shown many newly formed allopolyploids (neoallopolyploids) exhibit chromosomal variation as a result of meiotic irregularities, but few naturally occurring neoallopolyploids have been examined. (ufl.edu)
- 8) This gene, ocular laterality in cases of retinoblastoma is not found in the located in the chromosomal region 13q14, comprises more studies conducted. (bvsalud.org)
- Recent scientific insights combined with powerful new tools are allowing us to peer inside cells at the precise moment of cell division to understand this chromosomal instability (CIN) scientists have observed - and to learn how CIN drives cancer spread. (volastratx.com)
- The project aims to study the microbiome in paediatric cancer predisposition and chromosomal instability syndromes (CIS). (findaphd.com)
- In this study we assess chromosomal composition in a natural neoallotetraploid, Tragopogon mirus , and compare it with T. miscellus, which is an allotetraploid of similar age (~40 generations old). (ufl.edu)
- Little is known about how long chromosomal variation may persist and how it might influence the establishment and evolution of allopolyploids in nature. (ufl.edu)
- Chromosomal instability drives metastasis through a cytosolic DNA response. (broadinstitute.org)
- By analysing the differences in the number of repetitions of sequences of DNA within the tumours, they were able to characterise 17 different types of chromosomal instability. (cam.ac.uk)
- The chromosomal structure between strains tends to be much more varied than between two humans. (yeastgenome.org)
- The aim of this study was to clarify the association between the epigenetic instability phenotype and the chromosomal instability phenotype in primary hepatocellular carcinoma (HCC). (nih.gov)
- We found that the epigenetic instability phenotype and the chromosomal instability phenotype are not mutually exclusive in hepatocarcinogenesis and that they do not show a simple cause-and-effect relationship. (nih.gov)
- 13. Characterization of Chilean patients with sporadic colorectal cancer according to the three main carcinogenic pathways: Microsatellite instability, CpG island methylator phenotype and Chromosomal instability. (nih.gov)
- 17. Chromosomal instability and aneuploidy as causes of cancer drug resistance. (nih.gov)
- Cytogenetic analysis allows detection of chromosomal instability, which is a characteristic feature of the disease, although the poor response of T lymphocytes to mitogens can often make diagnosis difficult. (medscape.com)
- The increased frequency of induced chromosomal breakage in lymphocytes and fibroblasts clearly differentiates Nijmegen breakage syndrome cells from healthy cells. (medscape.com)
- There is evidence that increased frequency of chromosomal aberration (CA) in peripheral blood lymphocytes is a predictor of cancer, but further data are needed to better characterize CA as marker of cancer risk. (nih.gov)
- 5. Genome-wide single-nucleotide polymorphism arrays in endometrial carcinomas associate extensive chromosomal instability with poor prognosis and unveil frequent chromosomal imbalances involved in the PI3-kinase pathway. (nih.gov)
- 9. Genome-wide chromosomal instability by cell-free DNA sequencing predicts survival in patients with metastatic breast cancer. (nih.gov)
- 15. Genome instability in multiple myeloma. (nih.gov)
- Global genomic hypomethylation has been linked to the induction of chromosomal instability. (nih.gov)
- Nijmegen breakage syndrome (NBS) is a rare autosomal recessive condition of chromosomal instability that is clinically characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation sensitivity, and a strong predisposition to lymphoid malignancy. (medscape.com)
- Further investigations revealed that in vitro cells derived from patients with Nijmegen breakage syndrome display characteristic abnormalities similar to those observed in ataxia-telangiectasia (A-T) , including spontaneous chromosomal instability, sensitivity to ionizing radiation (IR), and radioresistant DNA synthesis (RDS). (medscape.com)
- Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14 or r(14). (medlineplus.gov)
- A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies. (nih.gov)
- However, the concept of chromosomal damage as a biomarker of early carcinogenic effects rests on the evidence of an association between biomarker frequency and cancer risk, in addition to that of an association between biomarker and exposure to genotoxic agents. (nih.gov)
- Chromosomal structural alterations of these 60 HCC tumors were characterized in our previous study by using whole genomic array-based comparative genomic hybridization. (nih.gov)
- It was noteworthy that epigenetic instability-positive and -negative HCCs displayed distinctive combinations of chromosomal structural alterations. (nih.gov)
- 10. Microsatellite stable colorectal cancers stratified by the BRAF V600E mutation show distinct patterns of chromosomal instability. (nih.gov)
- 1993. Protective effects of chlorogenic acid, curcumin and beta-carotene against gamma-radiation-induced in vivo chromosomal damage. (cdc.gov)
- 7. Chromosomal Instability in Tumor Initiation and Development. (nih.gov)