Robertsonian Fusion
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Robertsonian Fusion
Robertsonian translocation (ROB) is a chromosomal abnormality wherein a certain type of a chromosome becomes attached to another. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born. It does not usually cause health difficulties, but can in some cases result in genetic disorders such as Down syndrome and Patau syndrome. Robertsonian translocations result in a reduction in the number of chromosomes. Mechanism Humans have 5 autosomal chromosomes with arms that are particularly discordant in length, known as acrocentric chromosomes. These are 13, 14, 15, 21 and 22. When these chromosomes break at their centromeres, the two resulting long arms may fuse. The result is a single, large chromosome with a metacentric centromere. This form of rearrangement is a Robertsonian translocation. This type of translocation may involve homologous (paired) or non-homologous chromosomes. Owing to the acrocentric nature of the chromoso ...
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Robertsonian Translocation
Robertsonian translocation (ROB) is a chromosomal abnormality wherein a certain type of a chromosome becomes attached to another. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born. It does not usually cause health difficulties, but can in some cases result in genetic disorders such as Down syndrome and Patau syndrome. Robertsonian translocations result in a reduction in the number of chromosomes. Mechanism Humans have 5 autosomal chromosomes with arms that are particularly discordant in length, known as acrocentric chromosomes. These are 13, 14, 15, 21 and 22. When these chromosomes break at their centromeres, the two resulting long arms may fuse. The result is a single, large chromosome with a metacentric centromere. This form of rearrangement is a Robertsonian translocation. This type of translocation may involve homologous (paired) or non-homologous chromosomes. Owing to the acrocentric nature of the chromoso ...
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Homologous Chromosome
A couple of homologous chromosomes, or homologs, are a set of one maternal and one paternal chromosome that pair up with each other inside a cell during fertilization. Homologs have the same genes in the same loci where they provide points along each chromosome which enable a pair of chromosomes to align correctly with each other before separating during meiosis. This is the basis for Mendelian inheritance which characterizes inheritance patterns of genetic material from an organism to its offspring parent developmental cell at the given time and area. Overview Chromosomes are linear arrangements of condensed deoxyribonucleic acid (DNA) and histone proteins, which form a complex called chromatin. Homologous chromosomes are made up of chromosome pairs of approximately the same length, centromere position, and staining pattern, for genes with the same corresponding loci. One homologous chromosome is inherited from the organism's mother; the other is inherited from the organism ...
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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 bipedality, bipedalism and exceptional cognitive skills due to a large and complex Human brain, 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 family, families and kinship networks to political state (polity), states. Social interactions between humans have established a wide variety of values, norm (sociology), social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate Phenomenon, 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 generall ...
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Tarpan
The term tarpan (''Equus ferus ferus'') refers to free-ranging horses of the Russian steppe from the 18th to the 20th century. It is generally unknown whether those horses represented genuine wild horses, feral domestic horses or hybrids. The last individual believed to be a tarpan died in captivity in the Russian Empire during 1909. Beginning in the 1930s, several attempts were made to develop horses that looked like tarpans through selective breeding, called "breeding back" by advocates. The breeds that resulted included the Heck horse, the , and a derivation of the Konik breed, all of which have a primitive appearance, particularly in having the grullo coat colour. Some of these horses are now commercially promoted as "tarpans", although such animals are only domestic breeds and not the wild animal themselves. Name and etymology The name "tarpan" or "tarpani" derives from a Turkic language ( Kazakh or Kyrgyz) name meaning "wild horse". The Tatars and the Cossacks distingui ...
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Horse
The horse (''Equus ferus caballus'') is a domesticated, one-toed, hoofed mammal. It belongs to the taxonomic family Equidae and is one of two extant subspecies of ''Equus ferus''. The horse has evolved over the past 45 to 55 million years from a small multi-toed creature, ''Eohippus'', into the large, single-toed animal of today. Humans began domesticating horses around 4000 BCE, and their domestication is believed to have been widespread by 3000 BCE. Horses in the subspecies ''caballus'' are domesticated, although some domesticated populations live in the wild as feral horses. These feral populations are not true wild horses, as this term is used to describe horses that have never been domesticated. There is an extensive, specialized vocabulary used to describe equine-related concepts, covering everything from anatomy to life stages, size, colors, markings, breeds, locomotion, and behavior. Horses are adapted to run, allowing them to quickly escape predators, and po ...
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Przewalski's Horse
Przewalski's horse (, , (Пржевальский ), ) (''Equus ferus przewalskii'' or ''Equus przewalskii''), also called the takhi, Mongolian wild horse or Dzungarian horse, is a rare and endangered horse originally native to the steppes of Central Asia. It is named after the Russian geographer and explorer Nikolay Przhevalsky. Once extinct in the wild, it has been reintroduced to its native habitat since the 1990s in Mongolia at the Khustain Nuruu National Park, Takhin Tal Nature Reserve, and Khomiin Tal, as well as several other locales in Central Asia and Eastern Europe. Several genetic characteristics of Przewalski's horse differ from what is seen in modern domestic horses, indicating neither is an ancestor of the other. For example, the Przewalski has 33 chromosome pairs, compared to 32 for the domestic horse. Their ancestral lineages split from a common ancestor between 38,000 and 160,000 years ago, long before the domestication of the horse. Przewalski's horse was long ...
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Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding, ...
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Genetic Counseling
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease; this field is considered necessary for the implementation of genomic medicine. The process integrates: * Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence * Education about inheritance, testing, management, prevention, resources * Counseling to promote informed choices, adaptation to the risk or condition and support in reaching out to relatives that are also at risk History The practice of advising people about inherited traits began around the turn of the 20th century, shortly after William Bateson suggested that the new medical and biological study of heredity be called "genetics". Heredity became intertwined with social reforms when the field of modern eugenics took form. Althoug ...
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Gamete
A gamete (; , ultimately ) is a haploid cell that fuses with another haploid cell during fertilization in organisms that reproduce sexually. Gametes are an organism's reproductive cells, also referred to as sex cells. In species that produce two morphologically distinct types of gametes, and in which each individual produces only one type, a female is any individual that produces the larger type of gamete—called an ovum— and a male produces the smaller type—called a sperm. Sperm cells or spermatozoa are small and motile due to the flagellum, a tail-shaped structure that allows the cell to propel and move. In contrast, each egg cell or ovum is relatively large and non-motile. In short a gamete is an egg cell (female gamete) or a sperm (male gamete). In animals, ova mature in the ovaries of females and sperm develop in the testes of males. During fertilization, a spermatozoon and ovum unite to form a new diploid organism. Gametes carry half the genetic information of an ...
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RRNA
Ribosomal ribonucleic acid (rRNA) is a type of non-coding RNA which is the primary component of ribosomes, essential to all cells. rRNA is a ribozyme which carries out protein synthesis in ribosomes. Ribosomal RNA is transcribed from ribosomal DNA (rDNA) and then bound to ribosomal proteins to form small and large ribosome subunits. rRNA is the physical and mechanical factor of the ribosome that forces transfer RNA (tRNA) and messenger RNA (mRNA) to process and translate the latter into proteins. Ribosomal RNA is the predominant form of RNA found in most cells; it makes up about 80% of cellular RNA despite never being translated into proteins itself. Ribosomes are composed of approximately 60% rRNA and 40% ribosomal proteins by mass. Structure Although the primary structure of rRNA sequences can vary across organisms, base-pairing within these sequences commonly forms stem-loop configurations. The length and position of these rRNA stem-loops allow them to create three-di ...
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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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Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as cad ...
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