Chromosome Breakage
Translocation, Genetic
Chromosome Breakpoints
Chromosome Banding
Chromosome Mapping
Chromosome Aberrations
Chromosomes
X Chromosome
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 1
Sex Chromosomes
Chromosomes, Human, Pair 7
Chromosomes, Human
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 9
Chromosome Inversion
In Situ Hybridization, Fluorescence
Chromosomes, Human, Pair 6
Chromosomes, Bacterial
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 4
Chromosomes, Human, 6-12 and X
Chromosome Disorders
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 8
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 15
Chromosomes, Plant
Chromosomes, Fungal
Chromosomes, Human, Pair 18
Chromosomes, Mammalian
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 10
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 12
Chromosomes, Artificial, Yeast
Chromosome Painting
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 5
Chromosomes, Human, X
Chromosomes, Human, Y
Chromosomes, Human, 13-15
Chromosomes, Human, 1-3
Base Sequence
Molecular Sequence Data
Chromosomes, Human, Pair 20
Chromosomes, Human, 16-18
Gene Rearrangement
Chromosomes, Human, 21-22 and Y
Genetic Linkage
Genetic Markers
Recombination, Genetic
Chromosomes, Human, 4-5
Hybrid Cells
Centromere
Chromosome Positioning
Blotting, Southern
Meiosis
X Chromosome Inactivation
Metaphase
Cloning, Molecular
Sequence Analysis, DNA
Pedigree
Mutation
Chromosome Fragility
Phenotype
Aneuploidy
Polymerase Chain Reaction
Microsatellite Repeats
Nucleic Acid Hybridization
Chromosomes, Human, 19-20
Mitosis
Chromosome Walking
DNA Probes
Chromosome Fragile Sites
Crosses, Genetic
Alleles
DNA
Sequence Tagged Sites
Lod Score
Models, Genetic
Philadelphia Chromosome
Repetitive Sequences, Nucleic Acid
Cosmids
Gene Deletion
Nondisjunction, Genetic
Genome, Human
Amino Acid Sequence
Cytogenetic Analysis
Telomere
Evolution, Molecular
Multigene Family
Comparative Genomic Hybridization
Intellectual Disability
DNA, Satellite
Gene Dosage
Gene Duplication
Haplotypes
Drosophila melanogaster
Mosaicism
Genotype
Microbial Sensitivity Tests
Genes
Segmental Duplications, Genomic
Monosomy
DNA-Binding Proteins
Chromosomal Instability
Cytogenetics
Proto-Oncogenes
Heterozygote
Sequence Homology, Nucleic Acid
Chromosomes, Artificial, Human
Kinetochores
Isochromosomes
Contig Mapping
Proto-Oncogene Proteins c-bcr
Genome
Exons
Prader-Willi Syndrome
Chromosomal Proteins, Non-Histone
Physical Chromosome Mapping
Spindle Apparatus
Polymorphism, Genetic
DNA Primers
Diploidy
Nuclear Proteins
Genomic Structural Variation
Interphase
Polymorphism, Restriction Fragment Length
Myeloid-Lymphoid Leukemia Protein
DNA Transposable Elements
Karyotype
Sequence Alignment
Introns
Species Specificity
Transcription Factors
Chromosomes, Human, Pair 3
Loss of Heterozygosity
Chromatids
Alu Elements
Polymorphism, Single Nucleotide
Azure Stains
Gene Amplification
Genes, Lethal
Genes, Dominant
Drosophila
Cell Cycle Proteins
Polytene Chromosomes
Transcription, Genetic
Polyploidy
Chromatin
Plasmids
Oncogene Proteins, Fusion
Oncogenes
Genomic Library
Prophase
AT Rich Sequence
Genetic Loci
Saccharomyces cerevisiae
Genetic Predisposition to Disease
Spectral Karyotyping
Leukemia, Myeloid
Sequence Homology, Amino Acid
Angelman Syndrome
Genomic Imprinting
DNA Restriction Enzymes
Burkitt Lymphoma
Sex Chromosome Disorders
Spermatocytes
DNA Copy Number Variations
Restriction Mapping
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements. (1/164)
(+info)Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. (2/164)
(+info)Exon array profiling detects EML4-ALK fusion in breast, colorectal, and non-small cell lung cancers. (3/164)
(+info)Healing of euchromatic chromosome breaks by efficient de novo telomere addition in Drosophila melanogaster. (4/164)
(+info)Inferring tumor progression from genomic heterogeneity. (5/164)
(+info)Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). (6/164)
(+info)The t(14;18)(q32;q21)/IGH-MALT1 translocation in MALT lymphomas contains templated nucleotide insertions and a major breakpoint region similar to follicular and mantle cell lymphoma. (7/164)
(+info)Long-range oncogenic activation of Igh-c-myc translocations by the Igh 3' regulatory region. (8/164)
(+info)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.
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
https://www.britannica.com › science › Genetic-tr...
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 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.
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.
Inversions are classified based on their location along the chromosome:
* Interstitial inversion: A segment of DNA is reversed within a larger gene or group of genes.
* Pericentric inversion: A segment of DNA is reversed near the centromere, the region of the chromosome where the sister chromatids are most closely attached.
Chromosome inversions can be detected through cytogenetic analysis, which allows visualization of the chromosomes and their structure. They can also be identified using molecular genetic techniques such as PCR (polymerase chain reaction) or array comparative genomic hybridization (aCGH).
Chromosome inversions are relatively rare in the general population, but they have been associated with various developmental disorders and an increased risk of certain diseases. For example, individuals with an inversion on chromosome 8p have an increased risk of developing cancer, while those with an inversion on chromosome 9q have a higher risk of developing neurological disorders.
Inversions can be inherited from one or both parents, and they can also occur spontaneously as a result of errors during DNA replication or repair. In some cases, inversions may be associated with other genetic abnormalities, such as translocations or deletions.
Overall, chromosome inversions are an important aspect of human genetics and can provide valuable insights into the mechanisms underlying developmental disorders and disease susceptibility.
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.
Ring chromosomes are relatively rare, occurring in about 1 in every 10,000 to 20,000 births. They can be caused by a variety of factors, including genetic mutations, errors during cell division, or exposure to certain chemicals or radiation.
Ring chromosomes can affect anyone, regardless of age or gender. However, they are more common in certain populations, such as people with a family history of the condition or those who have certain medical conditions like Down syndrome or Turner syndrome.
The symptoms of ring chromosomes can vary widely and may include:
* Delayed growth and development
* Intellectual disability or learning difficulties
* Speech and language problems
* Vision and hearing impairments
* Heart defects
* Bone and joint problems
* Increased risk of infections and other health problems
Ring chromosomes can be diagnosed through a variety of tests, including karyotyping, fluorescence in situ hybridization (FISH), and microarray analysis. Treatment for the condition typically focuses on managing any associated health problems and may include medication, surgery, or other interventions.
In some cases, ring chromosomes can be inherited from one's parents. However, many cases are not inherited and occur spontaneously due to a genetic mutation. In these cases, the risk of recurrence in future pregnancies is generally low.
Overall, ring chromosomes are a complex and relatively rare chromosomal abnormality that can have a significant impact on an individual's health and development. With proper diagnosis and treatment, many people with ring chromosomes can lead fulfilling lives, but it is important to work closely with medical professionals to manage any associated health problems.
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.
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.
Some examples of multiple abnormalities include:
1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.
The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.
Trisomy is caused by an extra copy of a chromosome, which can be due to one of three mechanisms:
1. Trisomy 21 (Down syndrome): This is the most common type of trisomy and occurs when there is an extra copy of chromosome 21. It is estimated to occur in about 1 in every 700 births.
2. Trisomy 13 (Patau syndrome): This type of trisomy occurs when there is an extra copy of chromosome 13. It is estimated to occur in about 1 in every 10,000 births.
3. Trisomy 18 (Edwards syndrome): This type of trisomy occurs when there is an extra copy of chromosome 18. It is estimated to occur in about 1 in every 2,500 births.
The symptoms of trisomy can vary depending on the type of trisomy and the severity of the condition. Some common symptoms include:
* Delayed physical growth and development
* Intellectual disability
* Distinctive facial features, such as a flat nose, small ears, and a wide, short face
* Heart defects
* Vision and hearing problems
* GI issues
* Increased risk of infection
Trisomy can be diagnosed before birth through prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis. After birth, it can be diagnosed through a blood test or by analyzing the child's DNA.
There is no cure for trisomy, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition. This may include physical therapy, speech therapy, occupational therapy, and medication to manage heart defects or other medical issues. In some cases, surgery may be necessary to correct physical abnormalities.
The prognosis for trisomy varies depending on the type of trisomy and the severity of the condition. Some forms of trisomy are more severe and can be life-threatening, while others may have a more mild impact on the individual's quality of life. With appropriate medical care and support, many individuals with trisomy can lead fulfilling lives.
In summary, trisomy is a genetic condition that occurs when there is an extra copy of a chromosome. It can cause a range of symptoms and can be diagnosed before or after birth. While there is no cure for trisomy, treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition.
Synonyms: BCR-ABL fusion gene, t(9;22)(q34;q11), p210 protein, bcr-abl fusion transcript, breakpoint cluster region (BCR) - Abelson tyrosine kinase (ABLE) fusion gene.
Word Origin: Named after the city of Philadelphia, where it was first described in 1960.
There are several types of genetic nondisjunction, including:
1. Robertsonian translocation: This type of nondisjunction involves the exchange of genetic material between two chromosomes, resulting in a mixture of genetic information that can lead to developmental abnormalities.
2. Turner syndrome: This is a rare condition that occurs when one X chromosome is missing or partially present, leading to physical and developmental abnormalities in females.
3. Klinefelter syndrome: This condition occurs when an extra X chromosome is present, leading to physical and developmental abnormalities in males.
4. Trisomy 13: This condition occurs when there are three copies of chromosome 13, leading to severe developmental and physical abnormalities.
5. Trisomy 18: This condition occurs when there are three copies of chromosome 18, leading to severe developmental and physical abnormalities.
Genetic nondisjunction can be caused by various factors, including genetic mutations, errors during meiosis, or exposure to certain chemicals or radiation. It can be diagnosed through cytogenetic analysis, which involves studying the chromosomes of cells to identify any abnormalities.
Treatment for genetic nondisjunction depends on the specific type and severity of the condition. In some cases, no treatment is necessary, while in others, medication or surgery may be recommended. Prenatal testing can also be done to detect genetic nondisjunction before birth.
In summary, genetic nondisjunction is a chromosomal abnormality that occurs during meiosis and can lead to developmental and physical abnormalities. It can be caused by various factors and diagnosed through cytogenetic analysis. Treatment depends on the specific type and severity of the condition, and prenatal testing is available to detect genetic nondisjunction before birth.
There are various causes of intellectual disability, including:
1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.
Intellectual disability can result in a range of cognitive and functional impairments, including:
1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.
There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:
1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.
It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.
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.
Monosomy refers to a condition where an individual has only one copy of a particular chromosome, instead of the usual two copies present in every cell of the body. This can occur due to various genetic or environmental factors and can lead to developmental delays, intellectual disability, and physical abnormalities.
Other Defination:
Monosomy can also refer to the absence of a specific chromosome or part of a chromosome. For example, monosomy 21 is the condition where an individual has only one copy of chromosome 21, which is the chromosome responsible for Down syndrome. Similarly, monosomy 8p is the condition where there is a loss of a portion of chromosome 8p.
Synonyms:
Monosomy is also known as single chromosome deletion or single chromosome monosomy.
Antonyms:
Polysomy, which refers to the presence of extra copies of a particular chromosome, is the antonym of monosomy.
In Medical Terminology:
Monosomy is a genetic term that is used to describe a condition where there is only one copy of a particular chromosome present in an individual's cells, instead of the usual two copies. This can occur due to various factors such as errors during cell division or exposure to certain chemicals or viruses. Monosomy can lead to a range of developmental delays and physical abnormalities, depending on the location and extent of the missing chromosome material.
In Plain English:
Monosomy is a condition where a person has only one copy of a particular chromosome instead of two copies. This can cause developmental delays and physical abnormalities, and can be caused by genetic or environmental factors. It's important to note that monosomy can occur on any chromosome, but some specific types of monosomy are more common and well-known than others. For example, Down syndrome is a type of monosomy that occurs when there is an extra copy of chromosome 21.
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.
The symptoms of chromosome duplication vary depending on the location and number of extra chromosomes present. Some common symptoms include:
* Delayed development and growth
* Intellectual disability
* Speech and language delays
* Physical abnormalities, such as heart defects or facial dysmorphism
* Increased risk of developing certain health problems, such as autism or epilepsy
Chromosome duplication can be diagnosed through a blood test or by analyzing cells from the body. Treatment is based on the specific symptoms and may include speech therapy, physical therapy, medication, or surgery.
Prognosis for individuals with chromosome duplication varies depending on the location and number of extra chromosomes present, as well as the presence of any other genetic conditions. Some individuals with chromosome duplication may have a good prognosis and lead normal lives, while others may experience significant health problems and developmental delays.
In some cases, chromosome duplication can be inherited from one or both parents, who may be carriers of the condition but do not exhibit any symptoms themselves. In other cases, chromosome duplication can occur spontaneously due to a mistake during cell division.
There is currently no cure for chromosome duplication, but early diagnosis and appropriate interventions can help manage symptoms and improve outcomes for affected individuals.
Definition: Isochromosomes are chromosomes that have the same banding pattern and the same number of genes, but differ in size due to variations in the amount of repetitive DNA sequences.
Example: In some cases of cancer, isochromosomes may be present as a result of a chromosomal abnormality. These abnormalities can lead to changes in the expression of genes and potentially contribute to the development and progression of cancer.
Synonyms: Isochromosomes are also known as isochromosomi or isochromosomal aberrations.
Antonyms: There are no direct antonyms for isochromosomes, but related terms that refer to abnormalities in chromosome structure or number include aneuploidy, translocations, and deletions.
PWS is characterized by a range of physical, cognitive, and behavioral symptoms, including:
1. Delayed growth and development: Individuals with PWS often have slowed growth before birth and may be born with low birth weight. They may also experience delayed puberty and short stature compared to their peers.
2. Intellectual disability: Many individuals with PWS have intellectual disability, which can range from mild to severe.
3. Behavioral problems: PWS is often associated with behavioral challenges, such as attention deficit hyperactivity disorder (ADHD), anxiety, and obsessive-compulsive disorder (OCD).
4. Feeding and eating difficulties: Individuals with PWS may have difficulty feeding and swallowing, which can lead to nutritional deficiencies and other health problems. They may also experience a condition called "hyperphagia," which is characterized by excessive hunger and overeating.
5. Sleep disturbances: PWS is often associated with sleep disturbances, such as insomnia and restlessness.
6. Short stature: Individuals with PWS tend to be shorter than their peers, with an average adult height of around 4 feet 10 inches (147 cm).
7. Body composition: PWS is often characterized by a high percentage of body fat, which can increase the risk of obesity and other health problems.
8. Hormonal imbalances: PWS can disrupt the balance of hormones in the body, leading to issues such as hypogonadism (low testosterone levels) and hypothyroidism (underactive thyroid).
9. Dental problems: Individuals with PWS are at increased risk of dental problems, including tooth decay and gum disease.
10. Vision and hearing problems: Some individuals with PWS may experience vision and hearing problems, such as nearsightedness, farsightedness, and hearing loss.
It's important to note that every individual with PWS is unique, and not all will experience all of these symptoms. Additionally, the severity of the disorder can vary widely from person to person. With proper medical care and management, however, many individuals with PWS can lead fulfilling and productive 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.
Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.
The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.
Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.
Examples of diseases with a known genetic predisposition:
1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.
Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."
Myeloid leukemia can be classified into several subtypes based on the type of cell involved and the degree of maturity of the abnormal cells. The most common types of myeloid leukemia include:
1. Acute Myeloid Leukemia (AML): This is the most aggressive form of myeloid leukemia, characterized by a rapid progression of immature cells that do not mature or differentiate into normal cells. AML can be further divided into several subtypes based on the presence of certain genetic mutations or chromosomal abnormalities.
2. Chronic Myeloid Leukemia (CML): This is a slower-growing form of myeloid leukemia, characterized by the presence of a genetic abnormality known as the Philadelphia chromosome. CML is typically treated with targeted therapies or bone marrow transplantation.
3. Myelodysplastic Syndrome (MDS): This is a group of disorders characterized by the impaired development of immature blood cells in the bone marrow. MDS can progress to AML if left untreated.
4. Chronic Myelomonocytic Leukemia (CMML): This is a rare form of myeloid leukemia that is characterized by the accumulation of immature monocytes in the blood and bone marrow. CMML can be treated with chemotherapy or bone marrow transplantation.
The symptoms of myeloid leukemia can vary depending on the subtype and severity of the disease. Common symptoms include fatigue, weakness, fever, night sweats, and weight loss. Diagnosis is typically made through a combination of physical examination, blood tests, and bone marrow biopsy. Treatment options for myeloid leukemia can include chemotherapy, targeted therapies, bone marrow transplantation, and supportive care to manage symptoms and prevent complications. The prognosis for myeloid leukemia varies depending on the subtype of the disease and the patient's overall health. With current treatments, many patients with myeloid leukemia can achieve long-term remission or even be cured.
The main symptoms of AS include:
1. Developmental delay: Children with AS typically experience delays in reaching milestones such as sitting, standing, and walking.
2. Intellectual disability: Individuals with AS often have low IQ scores and may have difficulty with language skills, memory, and problem-solving.
3. Happy demeanor: People with AS are known to have a happy, outgoing, and sociable personality.
4. Speech and language difficulties: Individuals with AS may have trouble articulating words and sentences.
5. Motor skills problems: They may experience difficulty with coordination, balance, and fine motor skills.
6. Seizures: About 10% of individuals with AS experience seizures, usually in the form of atonic seizures (also known as drop attacks).
7. Sleep disturbances: Many people with AS have sleep problems, including insomnia and restlessness.
8. Behavioral issues: Some individuals with AS may exhibit behavioral challenges such as hyperactivity, impulsivity, and anxiety.
9. Vision problems: Some people with AS may experience vision difficulties, including strabismus (crossed eyes) and nystagmus (involuntary eye movements).
10. Feeding difficulties: Some individuals with AS may have trouble feeding themselves or experiencing gastrointestinal issues.
There is no cure for Angelman Syndrome, but various therapies can help manage the symptoms and improve the quality of life for individuals affected by the disorder. These may include physical therapy, occupational therapy, speech therapy, and behavioral interventions. Medications such as anticonvulsants and mood stabilizers may also be prescribed to manage seizures and other symptoms.
Also known as Burkitt's Lymphoma.
There are several types of sex chromosome disorders, including:
1. Turner Syndrome: A condition that occurs in females who have only one X chromosome instead of two. This can lead to short stature, infertility, and other health problems.
2. Klinefelter Syndrome: A condition that occurs in males who have an extra X chromosome (XXY). This can lead to tall stature, breast enlargement, and infertility.
3. XXY Syndrome: A condition that occurs in individuals with two X chromosomes and one Y chromosome. This can lead to tall stature, breast enlargement, and fertility problems.
4. XYY Syndrome: A condition that occurs in individuals with an extra Y chromosome (XYY). This can lead to taller stature and fertility problems.
5. Mosaicism: A condition where there is a mixture of normal and abnormal cells in the body, often due to a genetic mutation that occurred during embryonic development.
6. Y chromosome variants: These are variations in the Y chromosome that can affect male fertility or increase the risk of certain health problems.
7. Uniparental disomy: A condition where an individual has two copies of one or more chromosomes, either due to a genetic mutation or because of a mistake during cell division.
8. Structural variations: These are changes in the structure of the sex chromosomes, such as deletions, duplications, or translocations, which can affect gene expression and increase the risk of certain health problems.
Sex chromosome disorders can be diagnosed through chromosomal analysis, which involves analyzing a person's cells to determine their sex chromosome makeup. Treatment for these disorders varies depending on the specific condition and may include hormone therapy, surgery, or other medical interventions.
Types of Craniofacial Abnormalities:
1. Cleft lip and palate: A congenital deformity that affects the upper jaw, nose, and mouth.
2. Premature fusion of skull bones: Can result in an abnormally shaped head or face.
3. Distraction osteogenesis: A condition where the bones fail to grow properly, leading to abnormal growth patterns.
4. Facial asymmetry: A condition where one side of the face is smaller or larger than the other.
5. Craniosynostosis: A condition where the skull bones fuse together too early, causing an abnormally shaped head.
6. Micrognathia: A condition where the lower jaw is smaller than normal, which can affect breathing and feeding.
7. Macroglossia: A condition where the tongue is larger than normal, which can cause difficulty swallowing and breathing.
8. Oculofacial dysostosis: A condition that affects the development of the eyes and face.
9. Treacher Collins syndrome: A rare genetic disorder that affects the development of the face, particularly the eyes, ears, and jaw.
Causes of Craniofacial Abnormalities:
1. Genetics: Many craniofacial abnormalities are inherited from one or both parents.
2. Environmental factors: Exposure to certain drugs, alcohol, or infections during pregnancy can increase the risk of craniofacial abnormalities.
3. Premature birth: Babies born prematurely are at a higher risk for craniofacial abnormalities.
4. Trauma: Head injuries or other traumatic events can cause craniofacial abnormalities.
5. Infections: Certain infections, such as meningitis or encephalitis, can cause craniofacial abnormalities.
Treatment of Craniofacial Abnormalities:
1. Surgery: Many craniofacial abnormalities can be treated with surgery to correct the underlying deformity.
2. Orthodontic treatment: Braces or other orthodontic devices can be used to align teeth and improve the appearance of the face.
3. Speech therapy: Certain craniofacial abnormalities, such as micrognathia, can affect speech development. Speech therapy can help improve communication skills.
4. Medication: In some cases, medication may be prescribed to manage symptoms associated with craniofacial abnormalities, such as pain or breathing difficulties.
5. Rehabilitation: Physical therapy and occupational therapy can help individuals with craniofacial abnormalities regain function and mobility after surgery or other treatments.
It is important to note that the treatment of craniofacial abnormalities varies depending on the specific condition and its severity. A healthcare professional, such as a pediatrician, orthodontist, or plastic surgeon, should be consulted for proper diagnosis and treatment.
It is also important to remember that craniofacial abnormalities can have a significant impact on an individual's quality of life, affecting their self-esteem, social relationships, and ability to function in daily activities. Therefore, it is essential to provide appropriate support and resources for individuals with these conditions, including psychological counseling, social support groups, and education about the condition.
Types of Uniparental Disomy:
There are two types of UPD:
1. Uniparental disomy 22 (UPD(22): This type is caused by a deletion of one copy of chromosome 22, resulting in an individual having only one copy of the entire chromosome or a portion of it.
2. Uniparental disomy 15 (UPD(15): This type is caused by a deletion of one copy of chromosome 15, resulting in an individual having only one copy of the entire chromosome or a portion of it.
Causes and Symptoms:
The causes of UPD are not well understood, but it is believed that it may be caused by errors during cell division or the fusion of cells. Symptoms of UPD can vary depending on the location and size of the deleted chromosome material, but they may include:
1. Developmental delays
2. Intellectual disability
3. Speech and language difficulties
4. Behavioral problems
5. Dysmorphic features (physical abnormalities)
6. Congenital anomalies (birth defects)
7. Increased risk of infections and autoimmune disorders
8. Short stature
9. Skeletal abnormalities
10. Cardiac defects
Diagnosis and Treatment:
The diagnosis of UPD is based on a combination of clinical features, chromosomal analysis, and molecular genetic testing. Treatment for UPD is focused on managing the symptoms and addressing any underlying medical issues. This may include:
1. Speech and language therapy
2. Occupational therapy
3. Physical therapy
4. Medications to manage behavioral problems or seizures
5. Surgery to correct physical abnormalities or congenital anomalies
6. Infection prophylaxis (to prevent infections)
7. Immunoglobulin replacement therapy (to boost the immune system)
8. Antibiotics (to treat infections)
9. Cardiac management (to address any heart defects)
Prenatal Diagnosis:
UPD can be diagnosed prenatally using chorionic villus sampling or amniocentesis, which involve analyzing a sample of cells from the placenta or amniotic fluid. This allows parents to prepare for the possibility of a child with UPD and to make informed decisions about their pregnancy.
Counseling and Psychosocial Support:
UPD can have significant psychosocial implications for families, including anxiety, depression, and social isolation. It is essential to provide counseling and psychosocial support to parents and families to help them cope with the diagnosis and manage the challenges of raising a child with UPD.
Genetic Counseling:
UPD can be inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is enough to cause the condition. Genetic counseling can help families understand the risk of recurrence and make informed decisions about their reproductive options.
Rehabilitation and Therapy:
Children with UPD may require ongoing therapy and rehabilitation to address physical, cognitive, and behavioral challenges. This may include occupational therapy, speech therapy, and physical therapy.
Parental Support Groups:
Support groups for parents of children with UPD can provide a valuable source of information, emotional support, and practical advice. These groups can help families connect with others who are facing similar challenges and can help them feel less isolated and more empowered to navigate the complexities of raising a child with UPD.
In conclusion, the diagnosis of UPD can have significant implications for individuals and families. By understanding the causes, symptoms, diagnosis, treatment, and management options, healthcare providers can provide comprehensive care and support to those affected by this condition. Additionally, counseling, psychosocial support, genetic counseling, rehabilitation, and therapy can all play important roles in helping families navigate the challenges of UPD and improving the quality of life for individuals with this condition.
Turner syndrome occurs in approximately 1 in every 2,500 to 3,000 live female births and is more common in girls born to older mothers. The symptoms of Turner syndrome can vary widely and may include:
* Short stature and delayed growth and development
* Infertility or lack of menstruation (amenorrhea)
* Heart defects, such as a narrowed aorta or a hole in the heart
* Eye problems, such as cataracts, glaucoma, or crossed eyes
* Hearing loss or deafness
* Bone and joint problems, such as scoliosis or clubfoot
* Cognitive impairments, including learning disabilities and memory problems
* Delayed speech and language development
* Poor immune function, leading to recurrent infections
Turner syndrome is usually diagnosed at birth or during childhood, based on physical characteristics such as short stature, low muscle tone, or heart defects. Chromosomal analysis can also confirm the diagnosis.
There is no cure for Turner syndrome, but treatment can help manage the symptoms and improve quality of life. Hormone replacement therapy may be used to stimulate growth and development in children, while adults with the condition may require ongoing hormone therapy to maintain bone density and prevent osteoporosis. Surgery may be necessary to correct heart defects or other physical abnormalities. Speech and language therapy can help improve communication skills, and cognitive training may be beneficial for learning disabilities.
The long-term outlook for individuals with Turner syndrome varies depending on the severity of the condition and the presence of any additional health problems. With proper medical care and support, many women with Turner syndrome can lead fulfilling lives, but they may face unique challenges related to fertility, heart health, and other issues.
The BCR-ABL gene is a fusion gene that is present in the majority of cases of CML. It is created by the translocation of two genes, called BCR and ABL, which leads to the production of a constitutively active tyrosine kinase protein that promotes the growth and proliferation of abnormal white blood cells.
There are three main phases of CML, each with distinct clinical and laboratory features:
1. Chronic phase: This is the earliest phase of CML, where patients may be asymptomatic or have mild symptoms such as fatigue, night sweats, and splenomegaly (enlargement of the spleen). The peripheral blood count typically shows a high number of blasts in the blood, but the bone marrow is still functional.
2. Accelerated phase: In this phase, the disease progresses to a higher number of blasts in the blood and bone marrow, with evidence of more aggressive disease. Patients may experience symptoms such as fever, weight loss, and pain in the joints or abdomen.
3. Blast phase: This is the most advanced phase of CML, where there is a high number of blasts in the blood and bone marrow, with significant loss of function of the bone marrow. Patients are often symptomatic and may have evidence of spread of the disease to other organs, such as the liver or spleen.
Treatment for CML typically involves targeted therapy with drugs that inhibit the activity of the BCR-ABL protein, such as imatinib (Gleevec), dasatinib (Sprycel), or nilotinib (Tasigna). These drugs can slow or stop the progression of the disease, and may also produce a complete cytogenetic response, which is defined as the absence of all Ph+ metaphases in the bone marrow. However, these drugs are not curative and may have significant side effects. Allogenic hematopoietic stem cell transplantation (HSCT) is also a potential treatment option for CML, but it carries significant risks and is usually reserved for patients who are in the blast phase of the disease or have failed other treatments.
In summary, the clinical course of CML can be divided into three phases based on the number of blasts in the blood and bone marrow, and treatment options vary depending on the phase of the disease. It is important for patients with CML to receive regular monitoring and follow-up care to assess their response to treatment and detect any signs of disease progression.
There are many different types of congenital foot deformities, including:
1. Clubfoot (also known as talipes equinovarus): This is a condition in which the foot is twisted inward and downward, so that the heel is next to the ankle bone and the toes are pointing upwards.
2. Cavus foot (also known as high arch foot): This is a condition in which the arch of the foot is raised and rigid, making it difficult to walk or stand.
3. Flatfoot (also known as fallen arch foot): This is a condition in which the arch of the foot is low or nonexistent, causing the foot to appear flat.
4. Metatarsus adductus: This is a condition in which the forefoot is turned inward so that the toes are pointing towards the other foot.
5. Cleft foot: This is a rare condition in which the foot is misshapen and has a cleft or divide in the soft tissue.
6. Polydactyly (extra digits): This is a condition in which there are extra toes or fingers present.
7. Posterior tibial dysfunction: This is a condition in which the tendon that supports the arch of the foot is weakened or injured, leading to a flatfoot deformity.
8. Hereditary conditions: Some congenital foot deformities can be inherited from parents or grandparents.
9. Genetic syndromes: Certain genetic syndromes, such as Down syndrome, can increase the risk of developing congenital foot deformities.
10. Environmental factors: Exposure to certain medications or chemicals during pregnancy can increase the risk of congenital foot deformities.
Congenital foot deformities can be diagnosed through a physical examination, X-rays, and other imaging tests. Treatment options depend on the specific type and severity of the deformity, but may include:
1. Observation and monitoring: Mild cases of congenital foot deformities may not require immediate treatment and can be monitored with regular check-ups to see if any changes occur.
2. Orthotics and shoe inserts: Customized shoe inserts or orthotics can help redistribute pressure and support the foot in a more neutral position.
3. Casting or bracing: In some cases, casting or bracing may be used to help straighten the foot and promote proper alignment.
4. Surgery: In severe cases of congenital foot deformities, surgery may be necessary to correct the deformity. This can involve cutting or realigning bones, tendons, or other soft tissue to achieve a more normal foot position.
5. Physical therapy: After treatment, physical therapy may be recommended to help improve strength and range of motion in the affected foot.
The primary symptoms of DiGeorge syndrome include:
1. Cleft palate or other congenital facial abnormalities
2. Heart defects, such as Tetralogy of Fallot
3. Developmental delays and learning disabilities
4. Speech difficulties
5. Hearing loss
6. Vision problems
7. Immune system dysfunction
8. Thyroid gland abnormalities
9. Kidney and urinary tract defects
10. Increased risk of infections
DiGeorge syndrome is caused by a genetic mutation that occurs sporadically, meaning it is not inherited from either parent. The condition is usually diagnosed during infancy or early childhood, based on the presence of distinctive physical features and developmental delays. Treatment for DiGeorge syndrome typically involves managing the associated symptoms and developmental delays through a combination of medical interventions, therapies, and special education. With appropriate support and care, individuals with DiGeorge syndrome can lead fulfilling lives, although they may require ongoing medical attention throughout their lives.
There are several types of genomic instability, including:
1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.
Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.
Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.
In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.
Down syndrome can be diagnosed before birth through prenatal testing, such as chorionic villus sampling or amniocentesis, or after birth through a blood test. The symptoms of Down syndrome can vary from person to person, but common physical features include:
* A flat face with a short neck and small ears
* A short stature
* A wide, short hands with short fingers
* A small head
* Almond-shaped eyes that are slanted upward
* A single crease in the palm of the hand
People with Down syndrome may also have cognitive delays and intellectual disability, as well as increased risk of certain medical conditions such as heart defects, gastrointestinal problems, and hearing and vision loss.
There is no cure for Down syndrome, but early intervention and proper medical care can greatly improve the quality of life for individuals with the condition. Treatment may include speech and language therapy, occupational therapy, physical therapy, and special education programs. With appropriate support and resources, people with Down syndrome can lead fulfilling and productive lives.
Congenital hand deformities are present at birth and can be caused by genetic mutations or environmental factors during fetal development. They can affect any part of the hand, including the fingers, thumb, or wrist. Some common congenital hand deformities include:
1. Clubhand: A deformity characterized by a shortened hand with the fingers and thumb all bent towards the palm.
2. Clinodactyly: A deformity characterized by a curved or bent finger.
3. Postaxial polydactyly: A deformity characterized by an extra digit on the little finger side of the hand.
4. Preaxial polydactyly: A deformity characterized by an extra digit on the thumb side of the hand.
5. Symbrachydactyly: A deformity characterized by a shortened or missing hand with no or only a few fingers.
The symptoms of congenital hand deformities can vary depending on the type and severity of the deformity. Some common symptoms include:
1. Limited range of motion in the affected hand.
2. Difficulty grasping or holding objects.
3. Pain or stiffness in the affected hand.
4. Abnormal finger or thumb position.
5. Aesthetic concerns.
The diagnosis of congenital hand deformities is usually made through a combination of physical examination, medical history, and imaging studies such as X-rays or ultrasound. Treatment options for congenital hand deformities can vary depending on the type and severity of the deformity and may include:
1. Surgery to correct the deformity.
2. Physical therapy to improve range of motion and strength.
3. Bracing or splinting to support the affected hand.
4. Orthotics or assistive devices to help with daily activities.
5. Medications to manage pain or inflammation.
It is important to seek medical attention if you suspect that your child may have a congenital hand deformity, as early diagnosis and treatment can improve outcomes and reduce the risk of complications.
The disorder is caused by mutations in the GDF6 gene, which plays a crucial role in the development of the skeleton during embryonic life. The mutations lead to a deficiency of a protein called GDF6, which is important for the proper formation and maintenance of the long bones.
Campomelic dysplasia typically becomes apparent at birth or during early childhood, and the symptoms can vary in severity. In addition to short stature and bowed legs, affected individuals may have other skeletal abnormalities such as clubfoot, knock knees, or scoliosis. They may also experience joint pain and stiffness, particularly in the hips and knees.
There is no cure for campomelic dysplasia, but treatment can help manage the symptoms. Physical therapy, braces, and surgery may be recommended to improve joint mobility and straighten the limbs. In some cases, medications such as bisphosphonates may be prescribed to help strengthen bones and reduce pain.
Campomelic dysplasia is a rare disorder, and its prevalence is not well established. However, it is estimated to affect approximately 1 in 1 million individuals worldwide. The disorder can occur in individuals of any ethnicity, but it appears to be more common in certain populations such as the Amish and Mennonite communities.
In summary, campomelic dysplasia is a rare genetic disorder that affects the development of the skeleton, leading to short stature, bowed legs, and other skeletal abnormalities. While there is no cure for the disorder, treatment can help manage the symptoms and improve quality of life.
Ring chromosome 18
IMMP2L
Chromosomal deletion syndrome
SSX5
SSX4 (gene)
Retinoic acid receptor alpha
Lawrence B. Salkoff
Xp11.2 duplication
Distal 18q-
BCR (gene)
ELK1
Philadelphia chromosome
Ring chromosome 20 syndrome
SHFM3P1
Exosome component 2
Tricho-rhino-phalangeal syndrome Type 1
Isochromosome
NBPF19
1p36 deletion syndrome
Transcriptomics technologies
Bcl-2
BCL3
Chromothripsis
18p-
2p15-16.1 microdeletion syndrome
TCL6
Chromosomal inversion
Structural variation
Gene duplication
SSX1
ABL (gene)
Mitochondrial DNA
TACC3
Fluorescence in situ hybridization
Tiling array
Virtual karyotype
Chimeric RNA
POU4F1
MECOM
FIP1L1
DGCR5
Genome editing
FHIT
PRMT8
Minimal residual disease
Granulocyte colony-stimulating factor
AI-10-49
CYFIP1
FANCA
PDGFRB
Single-cell DNA template strand sequencing
Chromosomal fragile site
MAP7
IHPK1
SHANK3
Facioscapulohumeral muscular dystrophy
GRB10
Triple-stranded DNA
NBPF1
Structural variation in the human genome | Nature Reviews Genetics
Chromosome 18: MedlinePlus Genetics
Sample overview for 724831
Epigenetic Mechanisms in Autism Spectrum Disorders | IntechOpen
mediaTUM - Media and Publication Server
Chronic Myelogenous Leukemia (CML) Clinical Presentation: History, Physical Examination
Bordetella hinzii Pneumonia in Patient with SARS-CoV-2 Infection - Volume 28, Number 4-April 2022 - Emerging Infectious...
Alexander Eckehart Urban's Profile | Stanford Profiles
Instability of the Ph Chromosome in Chronic Myelocytic Leukemia - Cancer Genetics and Cytogenetics
Determination of complete chromosomal haplotypes by bulk DNA sequencing | bioRxiv
NIOSHTIC-2 Search Results - Full View
MH DELETED MN ADDED MN
DeCS
Kyoto Drosophila Stock Center, Kyoto Institute of Technology
SMART: RhoGEF domain annotation
Treatment Study for Older Patients with Acute Lymphoblastic Leukemia | RUSH
Human chromosome 7: DNA sequence and biology<...
der(15)t(1;15)(q11-12;p11-13) and der(15)t(1;15)(q21-25;p10-13)
Pesquisa | Portal Regional da BVS
Michael Henri Duyzend, M.D.,Ph.D. | Harvard Catalyst Profiles | Harvard Catalyst
Diagnosis and Management of Genetic Derivation 22 and 11 Chromosome-Emanuel Syndrome in 10-Year Old Boy
MTCP1 | Cancer Genetics Web
New breakpoints start from p13 to p15 - Diseño 9
Correlation of loss of heterozygosity with cytogenetic analysis using G-banding and fluorescence in situ hybridization in...
Human Genome Epidemiology Literature Finder|Home|PHGKB
Sequence-based characterization of structural variation in the mouse genome. - Oxford Big Data Institute
Integrated genomic profiling of chronic lymphocytic leukemia identifies subtypes of deletion 13q14. | Scholars@Duke
Session I - Chromosome Architecture | 18th ICACGM 2008
Chromosomal9
- The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 18. (medlineplus.gov)
- The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 11. (nih.gov)
- The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. (nih.gov)
- Multiple recurrent chromosomal breakpoints in mantle cell lymphoma revealed by a combination of molecular cytogenetic techniques. (tum.de)
- 14), but shows recurrent chromosomal breakpoints. (tum.de)
- My current research roles are 1) the analysis and interpretation of sequences of breakpoints of chromosomal abnormalities in Leukaemia. (ncl.ac.uk)
- Translocations can also be classified as intra-chromosomal translocations (ITXs) and inter-chromosomal translocations (CTXs), based on whether the chromosome of the source locus is the same as that of the target locus [ 2 ]. (biomedcentral.com)
- Chromosomal translocations between the long arm of chromosome 1 and the acrocentric chromosome 15 are mostly secondary events representing clonal evolution. (atlasgeneticsoncology.org)
- Emanuel syndrome (ES) is a chromosomal disorder caused by the presence of a supernumerary derivative chromosome (der[22]) that contains genetic material from chromosomes 11 and 22 [1]. (fortunepublish.com)
Translocation9
- 11. Translocation t(9;9)(p13;q34) in Philadelphia-negative chronic myeloid leukemia with breakpoint cluster region rearrangement. (nih.gov)
- 13. Distribution of breakpoint within the breakpoint cluster region (bcr) in chronic myelogenous leukemia with a complex Philadelphia chromosome translocation. (nih.gov)
- 17. Philadelphia chromosome positive precursor B-cell acute lymphoblastic leukemia with a translocation t(2;14)(p13;q32). (nih.gov)
- Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 in the form of a der(22) chromosome. (nih.gov)
- A translocation involving chromosome 11 can cause a type of cancerous tumor known as Ewing sarcoma. (nih.gov)
- The Philadelphia (Ph) chromosome, a shortened version of chromosome 22, results from a reciprocal translocation between chromosomes 9q34 and 22q11 [ 1,2,3 ]. (karger.com)
- Among 25 dysmorphic and mentally retarded subjects carrying apparently balanced de novo translocations, four had deletions at translocation breakpoints and two had deletions elsewhere in the genome. (bmj.com)
- Intrachromosomal rearrangement of chromosome 3q27: an under recognized mechanism of BCL6 translocation in B-cell non-Hodgkin lymphoma. (atlasgeneticsoncology.org)
- Balanced translocation resulting in fusion of the Abelson gene ( ABL 1 ) from chromosome 9q34 with the breakpoint cluster region ( BCR ) gene on chromosome 22q11.2 is the pathognomonic molecular driver of CML. (scientificarchives.com)
Cluster region4
- 1. Philadelphia chromosome without breakpoint cluster region rearrangement in a case of Lennert's lymphoma of suppressor phenotype. (nih.gov)
- 5. Occurrence of high-grade T-cell lymphoma in a patient with Philadelphia chromosome-negative chronic myelogenous leukemia with breakpoint cluster region rearrangement: case report and review of the literature. (nih.gov)
- 12. Philadelphia-positive acute leukemia: lineage promiscuity and inconsistently rearranged breakpoint cluster region. (nih.gov)
- 1. Analysis of a breakpoint cluster region associated with intrachromal amplification of chrmosome 21 in paediatric-pre-B cell leukaemia. (ncl.ac.uk)
Sequence5
- Pot2 is expressed only in mated cells, where it accumulates in developing macronuclei around the time of two chromosome processing events: internal eliminated sequence (IES) excision and chromosome breakage. (nih.gov)
- The specific sequence of DNA where CHROMOSOME BREAKS have occurred. (nih.gov)
- DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. (elsevierpure.com)
- To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. (elsevierpure.com)
- Non Templated Sequence (if any) which is inserted at the breakpoint. (nih.gov)
Gene8
- 8. Rearrangement of the bcr gene in Philadelphia chromosome-negative chronic myeloid leukemia. (nih.gov)
- For most genes on this chromosome, both copies of the gene are active (expressed) in cells. (nih.gov)
- This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. (antikoerper-online.de)
- A pseudogene of this gene is found on chromosome 3. (antikoerper-online.de)
- The results indicated functional evidence for a novel tumor suppressor locus within the 3p14-p12 interval known to contain the most common fragile site of the human genome (FRA3B), the FHIT gene, and the breakpoint region associated with the familial form of RCC. (nih.gov)
- The FHIT gene, FRA3B, and the familial RCC breakpoint region were excluded from the NRC-1 critical region. (nih.gov)
- The main consequence of these rearrangements is genomic imbalance resulting from the presence of an extra copy of the long arm of chromosome 1, leading to overexpression of several genes, likely implicated in neoplastic processes by a gene dosage effect. (atlasgeneticsoncology.org)
- The data accumulated in this field were obtained by different authors under different experimental conditions which does not give a complete insight about the nature of radiation-induced inherited mutations at different genome levels (chromosome, gene, DNA). (scientificarchives.com)
Rearrangement1
- 14. [Philadelphia chromosome positive acute mixed lineage leukemia with bcr (M-BCR-1) rearrangement]. (nih.gov)
Philadelphia10
- 3. Simultaneous demonstration of the Philadelphia chromosome in T, B, and myeloid cells. (nih.gov)
- 4. A variant Philadelphia chromosome (Ph1) positive chronic myelocytic leukemia. (nih.gov)
- 9. [The cellular and molecular-biological studies on Philadelphia chromosome-positive acute lymphocytic leukemia]. (nih.gov)
- 15. Philadelphia-chromosome-positive T-lymphoblastic leukemia: acute leukemia or chronic myelogenous leukemia blastic crisis. (nih.gov)
- 19. Heterogeneity of genomic fusion of BCR and ABL in Philadelphia chromosome-positive acute lymphoblastic leukemia. (nih.gov)
- Activity of a specific inhibitor of the BCR-ABL tyrosine kinase in the blast crisis of chronic myeloid leukemia and acute lymphoblastic leukemia with the Philadelphia chromosome. (medscape.com)
- Imatinib mesylate therapy in newly diagnosed patients with Philadelphia chromosome-positive chronic myelogenous leukemia: high incidence of early complete and major cytogenetic responses. (medscape.com)
- the Philadelphia chromosome was discovered in the 60's lowed when assessing response to TKI therapy [9]. (who.int)
- range 16-69) with Philadelphia chromosome (Ph+) positive in chronic phase CML with oral imatinib mesylate at daily doses of 400 mg. (curehunter.com)
- 65 years of age with newly diagnosed Philadelphia-chromosome positive (Ph+) ALL, relapsed/refractory Philadelphia-chromosome positive (Ph+) ALL, and Philadelphia-chromosome-like signature (Ph-Like) ALL with known or presumed activating dasatinib-sensitive mutations or kinase fusions (DSMKF). (rush.edu)
Sequences1
- The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred. (nih.gov)
Long arm of chromosome2
- The signs and symptoms of distal 18q deletion syndrome are thought to be related to the loss of multiple genes from this part of the long arm of chromosome 18. (medlineplus.gov)
- Unbalanced 1q translocations leading to complete or partial trisomies of the long arm of chromosome 1 have been widely reported in both lymphoid and myeloid neoplasms. (atlasgeneticsoncology.org)
Genome1
- This tab displays a Circos diagram, a circular plot showing each chromosome of the genome as a segment, with each datatype shown as a separate track on the image. (sanger.ac.uk)
Copy of chromosome2
- In some cases, the extra copy of chromosome 18 is present in only some of the body's cells. (medlineplus.gov)
- People normally inherit one copy of chromosome 11 from each parent. (nih.gov)
Piece of chromosome2
- Rarely, trisomy 18 is caused by an extra copy of only a piece of chromosome 18. (medlineplus.gov)
- In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 22 attached to a piece of chromosome 11. (nih.gov)
Copies of chromosome6
- Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
- In people with tetrasomy 18p, cells have the usual two copies of chromosome 18 plus an isochromosome 18p. (medlineplus.gov)
- Trisomy 18 occurs when each cell in the body has three copies of chromosome 18 instead of the usual two copies, causing severe intellectual disability and multiple birth defects that are usually fatal by early childhood. (medlineplus.gov)
- Affected individuals have two copies of chromosome 18, plus the extra material from chromosome 18 attached to another chromosome. (medlineplus.gov)
- If the entire q arm is present in three copies, individuals may be as severely affected as if they had three full copies of chromosome 18. (medlineplus.gov)
- These individuals have two normal copies of chromosome 11, two normal copies of chromosome 22, and extra genetic material from the der(22) chromosome. (nih.gov)
Extra chromosome3
- Tetrasomy 18p results from the presence of an abnormal extra chromosome, called an isochromosome 18p, in each cell. (medlineplus.gov)
- The extra chromosome is known as a derivative 22 or der(22) chromosome. (nih.gov)
- As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. (nih.gov)
Breakage3
- Tetrahymena Pot2 is a developmentally regulated paralog of Pot1 that localizes to chromosome breakage sites but not to telomeres. (nih.gov)
- Chromatin immunoprecipitation (ChIP) demonstrated Pot2 localization to regions of chromosome breakage but not to telomeres or IESs. (nih.gov)
- Pot2 association with chromosome breakage sites (CBSs) occurs slightly before chromosome breakage. (nih.gov)
Acrocentric2
- The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share large homologous regions, including ribosomal DNA repeats and extended segmental duplications 1,2 . (nih.gov)
- Unbalanced 1q translocations with an acrocentric recipient chromosome 15 result in 1q trisomy. (atlasgeneticsoncology.org)
Abnormalities2
- 2. Acute T-lymphocytic leukemia with Ph1 and 5q-chromosome abnormalities and rearrangements of bcr and TCR-delta genes. (nih.gov)
- Chromosome abnormalities in adult T-cell leukemia/lymphoma: a karyotype review committee report. (atlasgeneticsoncology.org)
Genes11
- Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
- Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
- Chromosome 18 likely contains 200 to 300 genes that provide instructions for making proteins. (medlineplus.gov)
- Researchers believe that extra copies of some genes on chromosome 18 disrupt the course of normal development, causing the characteristic features of trisomy 18 and the health problems associated with this disorder. (medlineplus.gov)
- Chromosome 11 likely contains 1,300 to 1,400 genes that provide instructions for making proteins. (nih.gov)
- Beckwith-Wiedemann syndrome results from the abnormal regulation of genes on part of the short (p) arm of chromosome 11. (nih.gov)
- People with paternal UPD are also missing genes that are active only on the maternal copy of the chromosome. (nih.gov)
- Mosaic paternal UPD leads to an imbalance in active paternal and maternal genes on chromosome 11, which causes the signs and symptoms of the disorder. (nih.gov)
- Like the other genetic changes responsible for Beckwith-Wiedemann syndrome, these changes disrupt the normal regulation of genes in this part of chromosome 11. (nih.gov)
- Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development. (nih.gov)
- The identification of recurring translocations and unique chromosome break points in melanoma will aid in the identification of the genes that are important in the neoplastic process. (cdc.gov)
Genetic material1
- Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. (nih.gov)
Locus2
Occurs5
- Distal 18q deletion syndrome occurs when a piece of the long (q) arm of chromosome 18 is missing. (medlineplus.gov)
- The term "distal" means that the missing piece (deletion) occurs near one end of the chromosome arm. (medlineplus.gov)
- The term "proximal" means that in this disorder the deletion occurs near the center of the chromosome, in an area between regions called 18q11.2 and 18q21.2. (medlineplus.gov)
- Partial trisomy 18 occurs when part of the q arm of chromosome 18 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. (medlineplus.gov)
- The chromosome where the first variant/breakpoint occurs. (nih.gov)
Tumors1
- Besides 11 and 14, the most commonly rearranged chromosomes were 1, 8, and 10 in the tumors and 1, 8, and 9 in the cell lines. (tum.de)
Leukemia1
- The Chromosomes in Human Cancer and Leukemia. (cancergeneticsjournal.org)
Commonly1
- Association study of the commonly recognized breakpoints in chromosome 15q11-q13 in Japanese autistic patients. (cdc.gov)
Supernumerary2
- A small supernumerary marker chromosome occurring with low frequency and the breakpoint of a mosaic r(18) case could not be clarified. (bmj.com)
- The affected progeny unlike their parent are genotypic ally unbalanced because they carry the der(22) as a supernumerary chromosome [3] therefore manifesting the distinctive phenotype of the disorder. (fortunepublish.com)
Fragments1
- We now report the physical mapping of the NRC-1 critical region by detailed microsatellite analyses of novel microcell hybrid clones containing transferred fragments of chromosome 3p in the RCC cell background that were phenotypically suppressed or unsuppressed for tumorigenicity in vivo. (nih.gov)
Syndrome2
- The deletion that causes distal 18q deletion syndrome can occur anywhere between a region called 18q21 and the end of the chromosome. (medlineplus.gov)
- People with Emanuel syndrome typically inherit the der(22) chromosome from an unaffected parent. (nih.gov)
Structural1
- Furthermore, most MCL harbor complex karyotypes with a high number of both structural and numerical alterations affecting several common breakpoints, leading to various balanced and unbalanced translocations. (tum.de)
Sporadic2
- Results: We detected a novel microduplication at chromosome Xq26.3 in 2 unrelated kindreds and 13 sporadic cases with infantile gigantism. (nih.gov)
- For these experiments, a defined subchromosomal fragment of human chromosome 3p was transferred into a sporadic RCC cell line via microcell fusion, and microcell hybrid clones were tested for tumorigenicity in vivo. (nih.gov)
Patients2
- In the group of patients with 1q21-25 breakpoints, it was a sole anomaly in 1 ALL (Strefford et al. (atlasgeneticsoncology.org)
- Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations. (atlasgeneticsoncology.org)
Mechanism1
- Breakpoint junctions revealed microhomology, suggesting a replicative mechanism for their formation. (nih.gov)
Cases1
- However, we identified 17 recurrent breakpoints, the most frequent being 1p22 and 8p11, each observed in four cases and two cell lines. (tum.de)
Complex1
- Conventional chromosome study revealed a complex paracentric inversion involving 2q14.3 and 2q34, and multicolor banding refined breakpoints to 2q14 and 2q34. (bmj.com)
Cell2
- As a result, each cell has four copies of the short arm of chromosome 18. (medlineplus.gov)
- 14), cryptic in one case and two cell lines, preferentially involving chromosome 8. (tum.de)
Presence1
- To exclude the presence of dic(1;15)(p10-11;p10-11) or dic(1;15)(q10 11;q10-11) fluorescence in situ hybridization with centromere-specific probes for both chromosomes is recommended. (atlasgeneticsoncology.org)
Version1
- Isochromosome 18p is a version of chromosome 18 made up of two p arms. (medlineplus.gov)
Short1
- Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. (medlineplus.gov)
Range1
- The last position in breakpoint range. (nih.gov)
Fusion1
- La recherche qualitative des transcrits de fusion a été réalisée au service de biochimie de l'Etablissement hospitalier et universitaire d'Oran, par la technique d'amplifica- tion en chaine par polymérase après rétro-transcription (RT-PCR). (who.int)