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International System For Human Cytogenetic Nomenclature
The International System for Human Cytogenomic Nomenclature (ISCN; previously the International System for Human Cytogenetic Nomenclature) is an international standard for human chromosome nomenclature, which includes band names, symbols, and abbreviated terms used in the description of human chromosome and chromosome abnormalities. The ISCN has been used as the central reference among cytogeneticists since 1960.Slovak M.L., Theisen A., Shaffer L.G. (2013) "Human Chromosome Nomenclature: An Overview and Definition of Terms." In: Gersen S., Keagle M. (eds) ''The Principles of Clinical Cytogenetics.'' Springer, New York, NY Abbreviations of this system include a minus sign (-) for chromosome deletions, and ''del'' for deletions of parts of a chromosome. Revision history * ISCN (2024). S. Karger Publishing. * ISCN (2020). S. Karger Publishing. * ISCN (2016). S. Karger Publishing. * ISCN (2013). S. Karger Publishing. * ISCN (2009). S. Karger Publishing. * ISCN (2005). ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Chromosome
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most important of these proteins are the histones. Aided by chaperone proteins, the histones bind to and condense the DNA molecule to maintain its integrity. These eukaryotic chromosomes display a complex three-dimensional structure that has a significant role in transcriptional regulation. Normally, chromosomes are visible under a light microscope only during the metaphase of cell division, where all chromosomes are aligned in the center of the cell in their condensed form. Before this stage occurs, each chromosome is duplicated (S phase), and the two copies are joined by a centromere—resulting in either an X-shaped structure if the centromere is located equatorially, or a two-armed structure if the centromere is located distally; the joined co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nomenclature
Nomenclature (, ) is a system of names or terms, or the rules for forming these terms in a particular field of arts or sciences. (The theoretical field studying nomenclature is sometimes referred to as ''onymology'' or ''taxonymy'' ). The principles of naming vary from the relatively informal conventions of everyday speech to the internationally agreed principles, rules, and recommendations that govern the formation and use of the specialist terminology used in scientific and any other disciplines. Naming "things" is a part of general human communication using words and language: it is an aspect of everyday taxonomy as people distinguish the objects of their experience, together with their similarities and differences, which observers identify, name and classify. The use of names, as the many different kinds of nouns embedded in different languages, connects nomenclature to theoretical linguistics, while the way humans mentally structure the world in relation to word meanings a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome Abnormalities
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. Sometimes chromosomal abnormalities arise in the early stages of an embryo, sperm, or infant. They can be caused by various environmental factors. The implications of chromosomal abnormalities depend on the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytogenetics
Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology (a subdivision of human anatomy), that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. Techniques used include Karyotype, karyotyping, analysis of G banding, G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as Fluorescence in situ hybridization, fluorescence ''in situ'' hybridization (FISH) and comparative genomic hybridization (CGH). History Beginnings Chromosomes were first observed in plant cells by Carl Nägeli in 1842. Their behavior in animal (salamander) cells was described by Walther Flemming, the discoverer of mitosis, in 1882. The name was coined by another German anatomist, Heinrich Wilhelm Gottfried von Waldeyer-Hartz, von Waldeyer in 1888. The next stage took place after the development of genetics in the early 20th century, when it was appreciated ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Three Chromosomal Abnormalities With ISCN Nomenclature
3 (three) is a number, numeral and digit. It is the natural number following 2 and preceding 4, and is the smallest odd prime number and the only prime preceding a square number. It has religious and cultural significance in many societies. Evolution of the Arabic digit The use of three lines to denote the number 3 occurred in many writing systems, including some (like Roman and Chinese numerals) that are still in use. That was also the original representation of 3 in the Brahmic (Indian) numerical notation, its earliest forms aligned vertically. However, during the Gupta Empire the sign was modified by the addition of a curve on each line. The Nāgarī script rotated the lines clockwise, so they appeared horizontally, and ended each line with a short downward stroke on the right. In cursive script, the three strokes were eventually connected to form a glyph resembling a with an additional stroke at the bottom: ३. The Indian digits spread to the Caliphate in the 9th c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Karyotype With Bands And Sub-bands
Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing#Evolution of hairlessness, hairlessness, bipedality, bipedalism, and high Human intelligence, intelligence. Humans have large Human brain, brains, enabling more advanced cognitive skills that facilitate successful adaptation to varied environments, development of sophisticated tools, and formation of complex social structures and civilizations. Humans are Sociality, highly social, with individual humans tending to belong to a Level of analysis, multi-layered network of distinct social groups — from families and peer groups to corporations and State (polity), political states. As such, social interactions between humans have established a wide variety of Value theory, values, norm (sociology), social norms, languages, and traditions (co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Karger Publishers
Karger Publishers, also known as Karger Medical and Scientific Publishers and S. Karger AG, is an academic publisher of scientific and medical journals and books. The current CEO is Daniel Ebneter. History The company was founded in 1890 in Berlin by Samuel Karger, who remained at the helm of the company until his death in 1935. His son, Heinz Karger led the company until his death in 1959, and Heinz's son (and Samuel's grandson) Thomas Karger took over the leadership of the company; he was followed as the company leader by his eldest son, Steven Karger, and, most recently, by his youngest daughter, Gabriella Karger, who leads the publishing house now. Its first medical journal, '' Dermatologische Zeitschrift'' (later: ''Dermatologica'', now: ''Dermatology'') was established in 1893. The company published works from well-known scientists such as Sigmund Freud. Because of political pressure from the Nazi regime, the company was relocated to Basel, Switzerland, in 1937 and lost al ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Locus (genetics)
In genetics, a locus (: loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of Human genome#Coding sequences (protein-coding genes), protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygote, homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygote, heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytogenetic Notation
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The following table summarizes symbols and abbreviations used in cytogenetics: See also * Chromosome abnormalities * Directionality (molecular biology) for 3' and 5' notation * locus (genetics) for basic notational system * International System for Human Cytogenetic Nomenclature References notation In linguistics and semiotics, a notation system is a system of graphics or symbols, Character_(symbol), characters and abbreviated Expression (language), expressions, used (for example) in Artistic disciplines, artistic and scientific disciplines ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
