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Polysomy
Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. Most eukaryotic species are diploid, meaning they have two sets of chromosomes, whereas prokaryotes are haploid, containing a single chromosome in each cell. Aneuploids possess chromosome numbers that are not exact multiples of the haploid number and polysomy is a type of aneuploidy. A karyotype is the set of chromosomes in an organism and the suffix -''somy'' is used to name aneuploid karyotypes. This is not to be confused with the suffix -''ploidy'', referring to the number of complete sets of chromosomes. Polysomy is usually caused by non-disjunction (the failure of a pair of homologous chromosomes to separate) during meiosis, but may also be due to a translocation mutation (a chromosome abnormality caused by rearrangeme ...
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Aneuploid
Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. It does not include a difference of one or more complete sets of chromosomes. A cell with any number of complete chromosome sets is called a '' euploid'' cell. An extra or missing chromosome is a common cause of some genetic disorders. Some cancer cells also have abnormal numbers of chromosomes. About 68% of human solid tumors are aneuploid. Aneuploidy originates during cell division when the chromosomes do not separate properly between the two cells ( nondisjunction). Most cases of aneuploidy in the autosomes result in miscarriage, and the most common extra autosomal chromosomes among live births are 21, 18 and 13. Chromosome abnormalities are detected in 1 of 160 live human births. Autosomal aneuploidy is more dangerous than sex chromosome aneuploidy, as autosomal aneuploidy is almost always lethal to embryos that cease deve ...
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Trisomy
A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Description and causes Most organisms that reproduce sexually have pairs of chromosomes in each cell, with one chromosome inherited from each parent. In such organisms, a process called meiosis creates cells called gametes (eggs or sperm) that have only one set of chromosomes. The number of chromosomes is different for different species. Humans have 46 chromosomes (i.e. 23 pairs of chromosomes). Human gametes have only 23 chromosomes. If the chromosome pairs fail to separate properly during cell division, the egg or sperm may end up with a second copy of one of the chromosomes. (''See'' non-disjunction.) If such a gamete results in fertilization and an embryo, the resulting embryo may also have an entire copy of the extra chromosome. Terminology The number of chromosomes in the cell ...
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Trisomy
A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two. A trisomy is a type of aneuploidy (an abnormal number of chromosomes). Description and causes Most organisms that reproduce sexually have pairs of chromosomes in each cell, with one chromosome inherited from each parent. In such organisms, a process called meiosis creates cells called gametes (eggs or sperm) that have only one set of chromosomes. The number of chromosomes is different for different species. Humans have 46 chromosomes (i.e. 23 pairs of chromosomes). Human gametes have only 23 chromosomes. If the chromosome pairs fail to separate properly during cell division, the egg or sperm may end up with a second copy of one of the chromosomes. (''See'' non-disjunction.) If such a gamete results in fertilization and an embryo, the resulting embryo may also have an entire copy of the extra chromosome. Terminology The number of chromosomes in the cell ...
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Human Karyotype With Bands And Sub-bands
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established a wide variety of values, social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus ''Homo'', in common usage, it generally refers to ''Homo sapiens'', the only extant member. Anatomically modern hum ...
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Multivalent
In chemistry, polyvalency (or polyvalence, multivalency) is the property of chemical species (generally atoms or molecules) that exhibit more than one valence by forming multiple chemical bonds (Fig. 1). A bivalent species can form two bonds; a trivalent species can form three bonds; and so on. The principle of polyvalency also applies to larger species, such as antibodies, medical drugs, and even nanoparticles surface-functionalized with ligands, like spherical nucleic acids Spherical nucleic acids (SNAs) are nanostructures that consist of a densely packed, highly oriented arrangement of linear nucleic acids in a three-dimensional, spherical geometry. This novel three-dimensional architecture is responsible for many o ..., which can show enhanced or cooperative binding compared to their monovalent counterparts. Nanoparticles with multiple nucleic acid strands on their surfaces (e.g., DNA) can form multiple bonds with one another by DNA hybridization to form hierarchical a ...
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Sturgeon
Sturgeon is the common name for the 27 species of fish belonging to the family Acipenseridae. The earliest sturgeon fossils date to the Late Cretaceous, and are descended from other, earlier acipenseriform fish, which date back to the Early Jurassic period, some 174 to 201 million years ago. They are one of two living families of the Acipenseriformes alongside paddlefish (Polyodontidae). The family is grouped into four genera: '' Acipenser'' (which is paraphyletic, containing many distantly related sturgeon species), '' Huso'', '' Scaphirhynchus,'' and '' Pseudoscaphirhynchus''. Two species ('' A. naccarii'' and '' A. dabryanus'') may be extinct in the wild, and one ('' P. fedtschenkoi'') may be entirely extinct. Sturgeons are native to subtropical, temperate and sub-Arctic rivers, lakes and coastlines of Eurasia and North America. Sturgeons are long-lived, late-maturing fishes with distinctive characteristics, such as a heterocercal caudal fin similar to those of sharks, ...
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Leukemia
Leukemia ( also spelled leukaemia and pronounced ) is a group of blood cancers that usually begin in the bone marrow and result in high numbers of abnormal blood cells. These blood cells are not fully developed and are called ''blasts'' or ''leukemia cells''. Symptoms may include bleeding and bruising, bone pain, fatigue, fever, and an increased risk of infections. These symptoms occur due to a lack of normal blood cells. Diagnosis is typically made by blood tests or bone marrow biopsy. The exact cause of leukemia is unknown. A combination of genetic factors and environmental (non-inherited) factors are believed to play a role. Risk factors include smoking, ionizing radiation, petrochemicals (such as benzene), prior chemotherapy, and Down syndrome. People with a family history of leukemia are also at higher risk. There are four main types of leukemia— acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), chronic lymphocytic leukemia (CLL) and chronic ...
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Mosaic (genetics)
Mosaicism or genetic mosaicism is a condition in multicellular organisms in which a single organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized egg. Genetic mosaics may often be confused with chimerism, in which two or more genotypes arise in one individual similarly to mosaicism. In chimerism, though, the two genotypes arise from the fusion of more than one fertilized zygote in the early stages of embryonic development, rather than from a mutation or chromosome loss. Genetic mosaicism can result from many different mechanisms including chromosome nondisjunction, anaphase lag, and endoreplication. Anaphase lagging is the most common way by which mosaicism arises in the preimplantation embryo. Mosaicism can also result from a mutation in one cell during development, in which case the mutation will be passed on only to its daughter cells (and will be present only in certain adult ...
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Pentasomy X
Pentasomy X, also known as 49,XXXXX, is a chromosomal disorder in which a female has five, rather than two, copies of the X chromosome. Pentasomy X is associated with short stature, intellectual disability, characteristic facial features, heart defects, skeletal anomalies, and pubertal and reproductive abnormalities. The condition is exceptionally rare, with an estimated prevalence between 1 in 85,000 and 1 in 250,000. The condition has a large variety of symptoms, and it is difficult to paint a conclusive portrait of its phenotypes. Though significant disability is characteristic, there are so few diagnosed cases that confident conclusions about the presentation and prognosis remain impossible. Pentasomy X may be mistaken for more common chromosomal disorders, such as Down syndrome or Turner syndrome, before a conclusive diagnosis is reached. Pentasomy X is not inherited, but rather occurs via nondisjunction, a random event in gamete development. In rare cases, it may be rela ...
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Tetrasomy 18p
Tetrasomy 18p is a genetic condition that is caused by the presence of an isochromosome composed of two copies of the short arm of chromosome 18 in addition to the two normal copies of the chromosome. It is characterized by multiple medical and developmental concerns. Signs and symptoms Tetrasomy 18p causes a wide range of medical and developmental problems.Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD (2010). Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet 152A(9): 2164-72. Congenital anomalies Cardiac anomalies are the most common congenital malformation in individuals with tetrasomy 18p. However, there is no pathognomatic heart defect associated with the condition. Patent ductus arteriosus is the most common defect. Septal defects (ventricular septal defects and atrial septal defects) are ...
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