Chromosomal translocation

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    R 14 Research Paper

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    takes the form of a ring as soon as its two extremities, the long arm and the short arm, fuse together. The fusion occurs through two ruptured events, one at the extremity of the short arm and the other at the end of the long arm, which usually leads to a partial loss of the informative genetic materil of chromosome 14. The chromosomal abnormality can affect all cells or Mosaic with a cell line that has lost a complete chromosome 14. Chromosomal aberration RING 14 is associated ith a number of recurrent signs and symptoms, which is why it causes a syndrome characterized by psychomotor retardation and multiple phenotypic abnormalities. The diagnosis of RING…

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    rage from terminal to mild. Scientists have distinguished more that 9,000 genetic disorders, some of which are exceptionally rare while others are common. One such genetic disorder is Philadelphia Translocation, a possibly terminal and relatively rare genetic disorder (fewer than 200,000 people in the U.S. per year are diagnosed). Named for the city where it was discovered, the Philadelphia chromosome is thought to be acquired after birth and is formed when two chromosomes (9 and 22) switch some…

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    Cri du chat syndrome, also referred to as cat cry syndrome and 5p deletion, is a chromosomal disorder resulting from the deletion of the short arm, known as the p arm on chromosome 5 (1). This disease was first described in 1963 by a French geneticist, Jerome Lejeune as a hereditary congenital syndrome (1). Today, it is known as one of most frequent autosomal deletion syndromes that results from loss of the distal portion of chromosome 5 affecting the telomerase reverse transcriptase (TERT)…

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    Genetic Diseases And Disorders Research Paper Down syndrome is a disorder of a person's chromosomes that cause mild to severe physical and mental disabilities. People are affected from birth and until death. Noticeable physical problems include a small skull , a narrowed or flat nose bridge, poor muscle tone, and folds beneath the eyes. It occurs in about one in every 700 births. Nearly 1600 kids are born with down syndrome in the united states. Most people that have down syndrome have…

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    taught by Professor Ed Schultz. Abstract In 1866, John Langdon Down; an English physician, recorded and published an accurate description of a person with Down syndrome. He stated that, the facial features of those who have Down syndrome were similar to those of the Mongolians and he called them mongoloids. Down syndrome, also known as Trisomy 21, is a condition where a person has been born with an extra copy of chromosome 21. Dr. Jerome Lejeune; a French physician discovered that being…

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    of genetic material from chromosome 21. Affected people with this genetic change called to have translocation Down syndrome. Down syndrome is chromosomal abnormalities, infant generally Identifies at birth through observation of a set of common physical characteristics. It is significant to remember that not all babies with Down syndrome will show all of the features discussed. There is great changeability in both the number and severity of characteristics. Infants with Down syndrome tend to be…

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    diagnostic test provides almost 100% accuracy when diagnosing a fetus with Down syndrome. This procedure involves chronic villus sampling (CVS, performed in the first trimester) and amniocentesis (performed in the second trimester). Although this procedure has a one percent risk of causing a miscarriage, there is a close to 100% chance of accurately diagnosing Down syndrome. If not diagnosed prenatally, once a baby is born, Down syndrome can easily be detected by certain physical traits. These…

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    Trisomy 21

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    development. As a result of this, a sperm or egg is produced with an extra chromosome 21. When it is combined with the other normal cell, the baby has 47 chromosomes out of which 3 are chromosomes 21. In 88% of the cases, trisomy 21 arises from the non-separation of the chromosomes in the mother, 8% from the non-separation of the father and only 3% when the egg and the sperm have merged together to form one. Translocation The extra chromosome 21 may also occur due to Robertsonian translocation…

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    The history and background of Edwards Syndrome comes from a man named John Hilton Edwards. He first wrote down his findings after a letter he wrote talking about heredity disorders. Pediatrics was his specialty and he was spending time at the Children’s Hospital in Birmingham when he saw a potential chromosomal disorder in a newborn. Edwards called it trisomy which means type unknown. Then he had some of the tissue tested and founded an extra chromosome. He then re-named named it trisomy…

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    Down Syndrome is the most prevalent and recognizable chromosomal abnormality in live born children, with a current prevalence of 2.8 out of 1000 children born with the genetic disorder [1]. In 1866, John Langdon Down termed the condition “mongolism” before it was later termed Down syndrome in honor of his discovery. Nearly a century later, geneticists Jerome Lejeune and Patricia Jacobs reported the chromosomal abnormality for the first time in humans to be secondary to a trisomy of chromosome 21…

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