The possession of four chromosomes of any one type in an otherwise diploid cell.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Mapping of the KARYOTYPE of a cell.
The possession of a third chromosome of any one type in an otherwise diploid cell.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A characteristic symptom complex.
Epidermal cells which synthesize keratin and undergo characteristic changes as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.
A family of small, non-enveloped DNA viruses infecting birds and most mammals, especially humans. They are grouped into multiple genera, but the viruses are highly host-species specific and tissue-restricted. They are commonly divided into hundreds of papillomavirus "types", each with specific gene function and gene control regions, despite sequence homology. Human papillomaviruses are found in the genera ALPHAPAPILLOMAVIRUS; BETAPAPILLOMAVIRUS; GAMMAPAPILLOMAVIRUS; and MUPAPILLOMAVIRUS.
The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder.
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Solid dosage forms, of varying weight, size, and shape, which may be molded or compressed, and which contain a medicinal substance in pure or diluted form. (Dorland, 28th ed)
Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.
A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)
Printed publications usually having a format with no binding and no cover and having fewer than some set number of pages. They are often devoted to a single subject.
A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system.

Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. (1/5)

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Characterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTB. (2/5)

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Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYY. (3/5)

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Global analysis of genome, transcriptome and proteome reveals the response to aneuploidy in human cells. (4/5)

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A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment. (5/5)

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

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

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

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

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

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

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

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

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

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

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

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

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

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

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

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

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

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

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

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

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

Human chromosome pair 15 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 15 includes two homologous chromosomes, meaning they have the same size, shape, and gene content but may contain slight variations in their DNA sequences.

These chromosomes play a crucial role in inheritance and the development and function of the human body. Chromosome pair 15 contains around 100 million base pairs of DNA and approximately 700 protein-coding genes, which are involved in various biological processes such as growth, development, metabolism, and regulation of gene expression.

Abnormalities in chromosome pair 15 can lead to genetic disorders, including Prader-Willi syndrome and Angelman syndrome, which are caused by the loss or alteration of specific regions on chromosome 15.

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

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

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

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

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

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

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

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Human chromosome pair 9 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. The two chromosomes in a pair are identical or very similar to each other in terms of their size, shape, and genetic makeup.

Chromosome 9 is one of the autosomal chromosomes, meaning that it is not a sex chromosome (X or Y) and is present in two copies in all cells of the body, regardless of sex. Chromosome 9 is a medium-sized chromosome, and it is estimated to contain around 135 million base pairs of DNA and approximately 1200 genes.

Chromosome 9 contains several important genes that are associated with various human traits and diseases. For example, mutations in the gene that encodes the protein APOE on chromosome 9 have been linked to an increased risk of developing Alzheimer's disease. Additionally, variations in the gene that encodes the protein EGFR on chromosome 9 have been associated with an increased risk of developing certain types of cancer.

Overall, human chromosome pair 9 plays a critical role in the development and function of the human body, and variations in its genetic makeup can contribute to a wide range of traits and diseases.

Human chromosome pair 8 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure known as a chromatin.

Human cells have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 8 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 8 has a similar size, shape, and banding pattern, and they are identical in males and females.

Chromosome pair 8 contains several genes that are essential for various cellular functions and human development. Some of the genes located on chromosome pair 8 include those involved in the regulation of metabolism, nerve function, immune response, and cell growth and division.

Abnormalities in chromosome pair 8 can lead to genetic disorders such as Wolf-Hirschhorn syndrome, which is caused by a partial deletion of the short arm of chromosome 4, or partial trisomy 8, which results from an extra copy of all or part of chromosome 8. Both of these conditions are associated with developmental delays, intellectual disability, and various physical abnormalities.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Keratinocytes are the predominant type of cells found in the epidermis, which is the outermost layer of the skin. These cells are responsible for producing keratin, a tough protein that provides structural support and protection to the skin. Keratinocytes undergo constant turnover, with new cells produced in the basal layer of the epidermis and older cells moving upward and eventually becoming flattened and filled with keratin as they reach the surface of the skin, where they are then shed. They also play a role in the immune response and can release cytokines and other signaling molecules to help protect the body from infection and injury.

Papillomaviridae is a family of small, non-enveloped DNA viruses that primarily infect the epithelial cells of mammals, birds, and reptiles. The name "papillomavirus" comes from the Latin word "papilla," which means nipple or small projection, reflecting the characteristic wart-like growths (papillomas) that these viruses can cause in infected host tissues.

The family Papillomaviridae includes more than 200 distinct papillomavirus types, with each type being defined by its specific DNA sequence. Human papillomaviruses (HPVs), which are the most well-studied members of this family, are associated with a range of diseases, from benign warts and lesions to malignant cancers such as cervical, anal, penile, vulvar, and oropharyngeal cancers.

Papillomaviruses have a circular, double-stranded DNA genome that is approximately 8 kbp in size. The viral genome encodes several early (E) proteins involved in viral replication and oncogenesis, as well as late (L) proteins that form the viral capsid. The life cycle of papillomaviruses is tightly linked to the differentiation program of their host epithelial cells, with productive infection occurring primarily in the differentiated layers of the epithelium.

In summary, Papillomaviridae is a family of DNA viruses that infect epithelial cells and can cause a variety of benign and malignant diseases. Human papillomaviruses are a significant public health concern due to their association with several cancer types.

Sleep deprivation is a condition that occurs when an individual fails to get sufficient quality sleep or the recommended amount of sleep, typically 7-9 hours for adults. This can lead to various physical and mental health issues. It can be acute, lasting for one night or a few days, or chronic, persisting over a longer period.

The consequences of sleep deprivation include:

1. Fatigue and lack of energy
2. Difficulty concentrating or remembering things
3. Mood changes, such as irritability or depression
4. Weakened immune system
5. Increased appetite and potential weight gain
6. Higher risk of accidents due to decreased reaction time
7. Health problems like high blood pressure, diabetes, and heart disease over time

Sleep deprivation can be caused by various factors, including stress, shift work, sleep disorders like insomnia or sleep apnea, poor sleep hygiene, and certain medications. It's essential to address the underlying causes of sleep deprivation to ensure proper rest and overall well-being.

A seizure is an uncontrolled, abnormal firing of neurons (brain cells) that can cause various symptoms such as convulsions, loss of consciousness, altered awareness, or changes in behavior. Seizures can be caused by a variety of factors including epilepsy, brain injury, infection, toxic substances, or genetic disorders. They can also occur without any identifiable cause, known as idiopathic seizures. Seizures are a medical emergency and require immediate attention.

In the context of medical terminology, tablets refer to pharmaceutical dosage forms that contain various active ingredients. They are often manufactured in a solid, compressed form and can be administered orally. Tablets may come in different shapes, sizes, colors, and flavors, depending on their intended use and the manufacturer's specifications.

Some tablets are designed to disintegrate or dissolve quickly in the mouth, making them easier to swallow, while others are formulated to release their active ingredients slowly over time, allowing for extended drug delivery. These types of tablets are known as sustained-release or controlled-release tablets.

Tablets may contain a single active ingredient or a combination of several ingredients, depending on the intended therapeutic effect. They are typically manufactured using a variety of excipients, such as binders, fillers, and disintegrants, which help to hold the tablet together and ensure that it breaks down properly when ingested.

Overall, tablets are a convenient and widely used dosage form for administering medications, offering patients an easy-to-use and often palatable option for receiving their prescribed treatments.

Electroencephalography (EEG) is a medical procedure that records electrical activity in the brain. It uses small, metal discs called electrodes, which are attached to the scalp with paste or a specialized cap. These electrodes detect tiny electrical charges that result from the activity of brain cells, and the EEG machine then amplifies and records these signals.

EEG is used to diagnose various conditions related to the brain, such as seizures, sleep disorders, head injuries, infections, and degenerative diseases like Alzheimer's or Parkinson's. It can also be used during surgery to monitor brain activity and ensure that surgical procedures do not interfere with vital functions.

EEG is a safe and non-invasive procedure that typically takes about 30 minutes to an hour to complete, although longer recordings may be necessary in some cases. Patients are usually asked to relax and remain still during the test, as movement can affect the quality of the recording.

Absence epilepsy is a type of epilepsy characterized by recurrent brief episodes of "absences," or staring spells, that can last from a few seconds to several minutes. These episodes are often accompanied by subtle body movements such as lip smacking or eyelid flutters. Absence epilepsy is most commonly diagnosed in children and adolescents, and it is more common in girls than boys.

The seizures in absence epilepsy are caused by abnormal electrical activity in the brain, specifically in a part of the brain called the cortex. These abnormal electrical discharges occur in a pattern that involves both sides of the brain simultaneously. This differs from other types of epilepsy, which may involve only one side of the brain or specific areas within a single hemisphere.

Absence seizures are typically brief and do not cause confusion or disorientation after they end. However, if they occur frequently, they can interfere with learning and social development. In some cases, absence epilepsy may be associated with other types of seizures, such as generalized tonic-clonic (grand mal) seizures or myoclonic jerks.

The diagnosis of absence epilepsy is usually made based on the characteristic symptoms and the results of an electroencephalogram (EEG), which can detect the abnormal electrical activity in the brain during a seizure. Treatment typically involves medication to control the seizures, such as ethosuximide or valproic acid. In some cases, a ketogenic diet may also be recommended as an alternative treatment option.

I'm sorry for any confusion, but "pamphlets" is not a medical term. It refers to a small paper booklet or leaflet that can be used to provide information on various topics, including non-medical subjects. If you have any questions about medical terminology or concepts, I'd be happy to help with those!

Neurology is a branch of medicine that deals with the study and treatment of diseases and disorders of the nervous system, which includes the brain, spinal cord, peripheral nerves, muscles, and autonomic nervous system. Neurologists are medical doctors who specialize in this field, diagnosing and treating conditions such as stroke, Alzheimer's disease, epilepsy, Parkinson's disease, multiple sclerosis, and various types of headaches and pain disorders. They use a variety of diagnostic tests, including imaging studies like MRI and CT scans, electrophysiological tests like EEG and EMG, and laboratory tests to evaluate nerve function and identify any underlying conditions or abnormalities. Treatment options may include medication, surgery, rehabilitation, or lifestyle modifications.

... tetrasomy 12p) Tetrasomy 9p Tetrasomy 18p Tetrasomy 21, a rare form of Down syndrome Tetrasomy X XXYY syndrome (Articles with ... Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and ... A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome. ... Cat eye syndrome where partial tetrasomy of chromosome 22 is present Pallister-Killian syndrome ( ...
Articles on Tetrasomy include: Tetrasomy Tetrasomy 9p Tetrasomy 18p Tetrasomy 18p Canada This disambiguation page lists ... articles associated with the title Tetrasomy. If an internal link led you here, you may wish to change the link to point ...
... (also known tetrasomy 9p syndrome) is a rare chromosomal disorder characterized by the presence of two extra ... Though rare, a few cases of phenotypically normal individuals with tetrasomy 9p have been documented. Tetrasomy 9p is caused by ... The small supernumerary marker chromosome in Tetrasomy 9p "Tetrasomy 9p" (PDF). rarechromo.org. Unique: Rare Chromosome ... affected individuals carry the tetrasomy in every cell in their bodies. However, some people have the tetrasomy in some of ...
... is a genetic condition that is caused by the presence of an isochromosome composed of two copies of the short arm ... Tetrasomy 18p is caused by the presence of an additional isochromosome composed of two copies of the p arm of chromosome 18. ... Diagnosis of tetrasomy 18p is typically made via a routine chromosome analysis from a blood sample. The diagnosis can also be ... Tetrasomy 18p de novo: Parental origin and different mechanisms of formation. Eur J Hum Genet 3:160-167. Kotzot D, Bundscherer ...
... only occurs in females, as the Y chromosome is in most cases necessary for male sexual development. Tetrasomy X was ... Tetrasomy X can interfere with pubertal development. Of the adult women recorded with tetrasomy X, half have had normal ... Tetrasomy X is estimated to occur in around 1 in 50,000 females. Considering the variable phenotype, tetrasomy X support ... Tetrasomy X is generally a random occurrence and does not recur in the same family. In rare cases, it may be related to a ...
Mosaicism with a tetrasomy X cell line generally appears more severe than typical trisomy X. Like trisomy X, tetrasomy X has a ... Although in most cases tetrasomy X is significantly more severe than trisomy X, some cases of tetrasomy X are mild, and some ... Tetrasomy X, characterized by four copies of the X chromosome, has some signs in common with more severe cases of trisomy X. ... The tetrasomy is generally more severe than the trisomy; intellectual disability is characteristic, dysmorphic features more ...
Tetrasomy 18p occurs when the short arm of the 18th chromosome appears four times, rather than twice, in the cells of the body ... Tetrasomy 9p is a rare condition in which people have a small extra chromosome that contains two copies of part of chromosome 9 ... Tetrasomy and hexasomy 8 are rare compared to trisomy 8, which is the most common karyotypic finding in acute myeloid leukemia ... Characteristic features of tetrasomy 18p include, but are not limited to: growth retardation, scoliosis, abnormal brain MRI, ...
Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics. 96 (4): 672-682. doi: ... XYYY and other high-level sex chromosome aneuploidies such as XXXY syndrome and tetrasomy X-or indeed 49-chromosome disorders ...
... and XYY and tetrasomy X in 1961. By the time of Linden, Bender, and Robinson's seminal review of sex chromosome tetrasomy and ... One is tetrasomy X, a related disorder in which a girl or woman has four copies of the X chromosome. The general profiles of ... For sex chromosome tetrasomy and pentasomy disorders as a whole, good prognosis is linked to strong parental and personal ... In sex chromosome tetrasomy and pentasomy, the extra chromosomes are consistently inherited from one parent. In the specific ...
Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics. 96 (4): 672-682. doi: ...
Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics. 96 (4 Pt 1): 672-82. doi ...
Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy". Pediatrics. 96 (4 Pt 1): 672-82. doi ...
Sex chromosome tetrasomy and pentasomy disorders are thought to be underdiagnosed, and people may exist who have milder ... By the time of Linden, Bender, and Robinson's seminal review of sex chromosome tetrasomy and pentasomy in 1995, five cases of ... This lack of prognosis information is common in sex chromosome tetrasomy and pentasomy; though longitudal studies exist for the ... XXXYY syndrome is thought to be associated with similar congenital issues to other sex chromosome tetrasomy and pentasomy ...
Aneuploidy Tetrasomy X Taurodontism "48,XXYY syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program ...
"Like "Tetrasomy Two", Skeels was a true original". Scott Murray, "Richard Franklin: Director/Producer", Senses of Cinema, 12 ... The Encyclopedia of Fantasy notes the similarity between the film's plot and that of the novel Tetrasomy Two by Oscar Rossiter ...
The sSMC in tetrasomy 9 cases is an isochromosome of one of 3 compositions: a) two p arms of chromosome 9 which are mirror ... Lu Y, Liang Y, Ning S, Deng G, Xie Y, Song J, Zuo N, Feng C, Qin Y (2020). "Rare partial trisomy and tetrasomy of 15q11-q13 ... Tetrasomy 9p (also termed 9p isochromosome) is associated with a wide range of birth defects including intrauterine growth ... Bellil H, Herve B, Herzog E, Ayoubi JM, Vialard F, Poulain M (March 2020). "A high level of tetrasomy 9p mosaicism but no ...
Battaglia A (2008). "The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)". Orphanet J Rare Dis. 3: 30. doi:10.1186/1750-1172 ... Isodicentric 15, also called marker chromosome 15 syndrome, idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv ...
... is a rare partial autosomal trisomy/tetrasomy syndrome. The condition was first identified in a 2009 ...
It is also suggested that U-type exchange during meiosis I may lead to partial tetrasomy. On the other hand, Class II marker ... In partial tetrasomy, the karyotype appears normal except for the marker chromosome. Mechanisms of formation of neocentromeres ... That acentric chromosome fragment may segregate with the intact chromatid and result in partial tetrasomy; or, it may segregate ... In some cases, segregation of these chromosomes result in partial trisomy, and at other times, a partial tetrasomy. ...
Adams-Oliver syndrome List of cutaneous conditions Tetrasomy 18p Fitch N, Levy EP (1975). "Adducted thumb syndromes". Clin. ...
Isodicentric 15, also called idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15). Jacobsen syndrome, which ...
Capkova, Pavlina; Misovicova, Nadezda; Vrbicka, Dita (2013). "Partial trisomy and tetrasomy of chromosome 21 without down ...
Cat eye syndrome (Schmid Fraccaro syndrome) is a condition caused by a partial trisomy or tetrasomy in chromosome 22. A small ...
In females, there is no evidence that trisomy X or tetrasomy X females are at higher risk of cancer. Breast cancer and ovarian ...
He was an important player in the early mapping of the salmonid genome and coined the term "residual tetrasomy". During his ...
... s typically occur in addition to the standard 46 chromosomes, making it a partial trisomy or tetrasomy ...
Samantha Martin was born with Tetrasomy 18p, a rare chromosome syndrome, resulting in global developmental delays, autism and a ...
The Pallister-Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an ...
Tetrasomy X and pentasomy X syndrome affect a small number of girls worldwide, while boys may be affected by 49, XXXXY, or 49, ...
... which is a dysmorphic syndrome with tissue-specific mosaicism of tetrasomy 12p. Veldman et al. (2002) discussed the ...
... tetrasomy 12p) Tetrasomy 9p Tetrasomy 18p Tetrasomy 21, a rare form of Down syndrome Tetrasomy X XXYY syndrome (Articles with ... Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and ... A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome. ... Cat eye syndrome where partial tetrasomy of chromosome 22 is present Pallister-Killian syndrome ( ...
Tetrasomy 18p is a chromosomal condition that affects many parts of the body. Explore symptoms, inheritance, genetics of this ... In people with tetrasomy 18p, cells have the usual two copies of chromosome 18 plus an isochromosome 18p. As a result, each ... Tetrasomy 18p results from the presence of an abnormal extra chromosome. , called an isochromosome 18p, in each cell. An ... Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet A. 2010 Sep;152A(9):2164-72. doi ...
Tetrasomy 18p Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes ... More About This Health Condition Tetrasomy 18p results from the presence of an abnormal ... one inherited from each parent. In ... N, Schoning M, Enders H, Eggermann T. Partial tetrasomy 12pter-12p12.3 in a girl with Pallister- ... ... Pallister-Killian syndrome PKS Teschler-Nicola/Killian syndrome Tetrasomy 12p, mosaic Genetic Testing Registry: Pallister- ...
... Am J Med Genet A. 2009 May;149A(5):993-6. ... This is the first-ever reported association of tetrasomy 13q with phylloid hypomelanosis and precocious puberty. Our report ... report on an 8-year-old girl with phylloid hypomelanosis and precocious puberty who was found to have mosaicism for tetrasomy ...
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).. Battaglia A. Orphanet J Rare Dis 2008 Nov 19;3:30. doi: 10.1186/1750- ... 4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.. Kobayashi J, Kimijima Y, Yamada S, Amagasa T, Saito-Ohara F ... Tetrasomy 8 is associated with a major cellular proliferative advantage and a poor prognosis. two cases of myeloid hematologic ... Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.. Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede ...
To our knowledge, this is the first report of CPM for tetrasomy 9p. Postnatally the diagnosis of SCD was made on the basis of ... The clinical picture was complicated by the co-existent diagnosis of confined placental mosaicism (CPM) for tetrasomy 9p. ... To our knowledge, this is the first report of CPM for tetrasomy 9p. Postnatally the diagnosis of SCD was made on the basis of ... Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. ...
Tetrasomy X (n = 1). Table 3. Camp activity descriptions and classification table. ...
Tetrasomy. 1. 0.5. 1. Translocation. 50. 24.8. 4. 9. 1. 19. 3. 13. ...
Tetrasomy 18p. Established in 2008, the CAL program has developed into a list of 233 conditions. Qualifying impairments include ...
TheFetus.net website was created with the goal of sharing experiences in prenatal diagnosis to enrich the practitioners knowledge worldwide. Since the first case of the week was published in May 1999, we have become an international community that works together to improve healthcare across the globe. We appreciate support of any kind so we can continue to pursue this vision for many years to come. TheFetus.net is registered as a 501(c)3 non-profit organization with the United States Internal Revenue Service and your donations are tax deductible. TheFetus.net is generously supported by donations from the Thomas Nelson Abdella MD Foundation, which strives to support education in maternal fetal medicine. ...
TheFetus.net website was created with the goal of sharing experiences in prenatal diagnosis to enrich the practitioners knowledge worldwide. Since the first case of the week was published in May 1999, we have become an international community that works together to improve healthcare across the globe. We appreciate support of any kind so we can continue to pursue this vision for many years to come. TheFetus.net is registered as a 501(c)3 non-profit organization with the United States Internal Revenue Service and your donations are tax deductible. TheFetus.net is generously supported by donations from the Thomas Nelson Abdella MD Foundation, which strives to support education in maternal fetal medicine. ...
Isodicentric 15, also called idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15). ...
Complex congenital heart malformations in mosaic tetrasomy 8p: case report and review of the literature. Am J Med Genet. 1997 ... DORV has also been associated with trisomies 13 and 18 and tetrasomy 8p. ...
Partial Tetrasomy 18, 09/22/1977, Peterborough, NH 2015- January/ February 3 ER visits for ... Robert English, Partial Tetrasomy 18, 09/22/1977, Peterborough, NH. 2015- January/ February 3 ER visits for urinary tract ... There are now 200 tetrasomys known to the registry. Two are older than bob. We met one at this years ch18 conference. ... Tetrasomy 18p occurs randomly in one out of 140,000 births. Life expectancy is normal! ...
Partial tetrasomy with triplication of chromosome (5)(p14-p15. 33) in a patient with severe multiple congenital anomalies (1998 ... Multiple origins of X chromosome tetrasomy. (1994). Journal of medical genetics, 31 (5), 424--425 ...
Chromosome 12p tetrasomy syndrome. *Chromosome 7q deletion syndrome. *Ciprofloxacin. *Cocaine. *Congenital muscular dystrophy, ...
Partial tetrasomy 14 associated with multiple malformations: J. Winberg, et al.; Am. J. Med. Genet. A. 161A, 1284 (2013), ...
Tetrasomy 6p caused by a small supernumerary marker chromosome presenting Trisomy distal 6p Phenotype. A small supernumerary ...
... as observed through tetrasomy and nullisomy43. However the inability of these chromosomes to recombine during meiosis remained ...
... resulting in tetrasomy for 15q11.2-q13.1. Approximately 20% of individuals have one extra copy. ...
Partial tetrasomy of chromosome 3q and mosaicism in a child with autism.. J Autism Dev Disord. 2003 Apr;33(2):177-85.. In this ... Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder.. Arq Neuropsiquiatr. ... tetrasomy of chromosome 15; and XYY syndrome. Only the subject who had tetrasomy 15 met the criteria for autistic disorder, ... We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental ...
CD64 plays an important role in the immune response and its dysfunction has been studied in cervical adenitis and tetrasomy 21. ...
Phenotype data for mouse gene Trpm6. Discover Trpm6s significant phenotypes, expression, images, histopathology and more. Data for gene Trpm6 is all freely available for download.
Diagnosed with Tetrasomy 8p Mosaicism (1-of-31 worldwide), complete agenesis of the Corpus Callosum (a rare brain disorder) and ...
Tetrasomy and pentasomy. A tetrasomy and a pentasomy are the presence of a respectively four or five copies of a chromosome. ... Although very rare, reported examples of tetrasomy and pentasomy in humans include the karyotypes XXXX (XXXX syndrome), XXXY, ...
Cody has Tetrasomy 9P, meaning he has four copies of his ninth chromosome while most people have two. Codys great at playing ...
Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics. 1995;96:672-82. ...
If four copies exist, it is called a tetrasomy, and so on. This is also sometimes called hyperdiploid myeloma (too many ... If the patients had a high-risk genetic feature (like del17p or t4;14) plus a trisomy or tetrasomy, they had better overall ...
Tetrasomy 18p. There are now 233 qualifying conditions on the list. Other conditions on the list include severe diseases such ...
... and tetrasomy of chromosomes 8 and 21.. de Figueiredo, Amanda Faria, Hasmik Mkrtchyan, Thomas Liehr, Eliane Maria Soares ... year-old girl with AML-M5 and 51 chromosomes characterized by double tetrasomy of chromosomes 8 and 21 and also a neocentric ...
  • We describe a male infant with partial tetrasomy 21 whose examination was consistent with but not typical of trisomy 21. (bmj.com)
  • A tetrasomy is a form of aneuploidy with the presence of four copies, instead of the normal two, of a particular chromosome. (wikipedia.org)
  • In people with tetrasomy 18p, cells have the usual two copies of chromosome 18 plus an isochromosome 18p. (medlineplus.gov)
  • Distal tetrasomy 15q is a rare chromosomal disorder caused by the presence of an extra copy of genetic material on the long arm (q) of chromosome 15. (rarediseaseshealthcenter.com)
  • Tetrasomy 6p caused by a small supernumerary marker chromosome presenting Trisomy distal 6p Phenotype. (chromodisorder.org)
  • A tetrasomy and a pentasomy are the presence of a respectively four or five copies of a chromosome. (wikidoc.org)
  • Cody has Tetrasomy 9P, meaning he has four copies of his ninth chromosome while most people have two. (theodysseyonline.com)
  • In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). (lookformedical.com)
  • Numerical abnormalities occur when a person has one or more extra copies of a chromosome (for example, one extra is trisomy, and two extra is tetrasomy) or is missing a chromosome (monosomy). (msdmanuals.com)
  • By using the der(19)t(17;19) as clonal marker, we found that i(5)(p10) and tetrasomy 8 were secondary genetic events and that tetrasomy 8 had clonally evolved from trisomy 8. (biomedcentral.com)
  • In addition, our case supports the hypothesis of a step-wise clonal evolution from trisomy 8 to tetrasomy 8 in AML. (biomedcentral.com)
  • Diagnosis and clinical delineation of mosaic tetrasomy 5p. (nih.gov)
  • Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization, and literature review. (nih.gov)
  • Tetrasomy 9p mosaicism associated with a normal phenotype in two cases. (upd-tl.com)
  • The inv dup (15) or idic (15) syndrome ( Tetrasomy 15q). (nih.gov)
  • E ditor -Tetrasomy 21 without mosaicism has previously been described in four liveborn children, two of whom had physical features consistent with Down syndrome. (bmj.com)
  • On August 20, 2018, we added five conditions -Fibrolamellar Cancer, Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS), Megalencephaly Capillary Malformation Syndrome (MCAP), Superficial Siderosis of the Central Nervous System, and Tetrasomy 18p-to this essential list. (ssa.gov)
  • Tetrasomy 18p is a chromosomal condition that affects many parts of the body. (medlineplus.gov)
  • She now resides in Victoria, British Columbia with her daughter, Shelby, who was born with a very rare chromosomal condition known as Tetrasomy 18p. (camilladowns.com)
  • Some chromosomal abnormalities albeit recurrent are rare such as tetrasomy 8 or isochromosome 5p. (biomedcentral.com)
  • CD64 plays an important role in the immune response and its dysfunction has been studied in cervical adenitis and tetrasomy 21. (thermofisher.com)
  • Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and sperm cells (gametogenesis). (wikipedia.org)
  • Tetrasomy 18p occurs randomly in one out of 140,000 births. (trisomy.org)
  • Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing. (nih.gov)
  • The clinical picture was complicated by the co-existent diagnosis of confined placental mosaicism (CPM) for tetrasomy 9p. (ox.ac.uk)
  • Psychiatric conditions, such as attention-deficit/hyperactivity disorder (ADHD) and anxiety, as well as social and behavioral challenges have also been reported in some people with tetrasomy 18p. (medlineplus.gov)
  • Here, we report on an 8-year-old girl with phylloid hypomelanosis and precocious puberty who was found to have mosaicism for tetrasomy 13q in the form of inverted dup(13)(q21) on her skin fibroblasts as well as peripheral blood karyotype. (nih.gov)
  • To our knowledge, this is the first report of CPM for tetrasomy 9p. (ox.ac.uk)
  • Here we report a unique case of acute monoblastic leukemia with gain of i(5)(p10), tetrasomy 8, an unbalanced translocation der(19)t(17;19)(q23;p13.3) and mutated NPM1 . (biomedcentral.com)
  • FISH analysis revealed a significant increase in tetrasomy 8 frequency, but not in other chromosomes examined. (nih.gov)
  • Tetrasomy of all six chromosomes was present in two high-grade SILs but no ISCCs. (dundee.ac.uk)
  • Poor correlation between the presence of tri-/tetrasomy and overexpression was observed for chromosomes 14 and 17. (birmingham.ac.uk)
  • Tetrasomy of chromosomes 1, 3, 11, 17, 18, and X was present in nine lesions, all of which were infected with high-risk HPVs, but was not related to the pattern of cyclin expression. (dundee.ac.uk)
  • The finding of equal allele dosage for tetrasomy 21 suggests that hyperdiploidy originates in a single aberrant mitosis, though a sequential gain of chromosomes other than 21 in consecutive cell divisions remains a possibility. (ashpublications.org)
  • Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome. (nih.gov)
  • Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissues. (bvsalud.org)
  • A third amniocentesis at 27 weeks of gestation revealed a karyotype of 46, XX (10/10 colonies) in cultured amniocytes, and interphase FISH analysis on uncultured amniocytes revealed 20% (20/100 cells ) mosaicism for tetrasomy 9p. (bvsalud.org)
  • Prenatal diagnosis of mosaic tetrasomy 18p. (nih.gov)
  • Tetrasomy 8 detected by interphase cytogenetics in a child with acute lymphocytic leukemia. (nih.gov)
  • Here we present a case of a 7-year-old boy with acute lymphoblastic leukemia (ALL) displaying a tetrasomy 8 clone that could not be detected by conventional cytogenetics. (nih.gov)
  • When follow-up at age two months, the neonate was phenotypically normal, the peripheral blood had a karyotype of 47,XX,+idic (9) (q12)[18]/46,XX [22], and interphase FISH analysis on 100 buccal mucosal cells revealed 1% (1/100 cells ) mosaicism for tetrasomy 9p. (bvsalud.org)
  • Here we report a de novo tetrasomy 18p. (nih.gov)
  • Our findings indicate the utility of FISH analysis in cytogenetic monitoring of leukemia patients and further show that tetrasomy 8 may play a specific role in a subtype of ALL. (nih.gov)
  • Tetrasomy 8 is a rare clonal anomaly in human acute leukemia. (nih.gov)
  • Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and sperm cells (gametogenesis). (wikipedia.org)