where was klinefelter syndrome discovered
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About 47,XXY Klinefelter syndrome was first described in 1942 by Dr. Harry Klinefelter, an endocrinologist at Massachusetts General Hospital. He published a case study of nine adult men with a common set of symptoms involving hypogonadism. At the time, chromosomes had not yet been discovered.
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Restless legs syndrome Other than the first one, all of the linkage loci were discovered using an autosomal dominant model of inheritance. 1  The first genetic locus was discovered in one large French Canadian family and maps on chromosome 12q. 2  The second RLS locus maps to chromosome 14q and was discovered in one Italian family.
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Gender and Genetics Klinefelter syndrome (47XXY or XY/XXY mosaic) with male phenotype is the most pervasive sex chromosomal anomaly (26) affecting approximately 1:600 males. (27) Males with Klinefelter syndrome carry two or more X chromosomes which results in abnormal development of the testis, leading to hypogonadism and infertility.
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Dr. Ivar AsbjÃ¸rn FÃ¸lling â The Man Who Discovered PKU Disorder PKU disorder discovery. The sequence of events that will begin to unfold in 1934., after a revolutionary discovery made by Dr. Asbjoern Asbjørn, foelling følling will ultimately change the lives of thousands, of children as well as. medical community
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Mary Leakey Among her many scientific accomplishments, Mary is credited with the discovery of Proconsul africanus in 1948, Zinjanthropus boisei (now known as Australopithecus boisei) in 1959, Homo habilis in 1960, and an amazingly well-preserved 89-foot long trail of early human footprints found at Laetoli (1979).
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- Some people with features of Klinefelter syndrome have the extra X chromosome in only some of their cells; in these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY).
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Klinefelter syndrome Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals. Affected individuals typically have small testes that do not produce as much testosterone as usual.
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- Kleine-Levin syndrome (KLS) is a rare disorder with an estimated prevalence of one to five cases per million population [2-7]. Population-based studies have not been performed. Patients with primary KLS can be found worldwide, with a higher prevalence among Ashkenazi Jews.
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Tuberous sclerosis Tuberous sclerosis--also called tuberous sclerosis complex (TSC) 1 --is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.SC is caused by defects, or mutations, on two genes-TSC1 and TSC2. Only one of the genes needs to be affected for TSC to be present. The TSC1 gene, discovered in 1997, is on chromosome 9 and produces a protein called hamartin. The TSC2 gene, discovered in 1993, is on chromosome 16 and produces the protein tuberin.
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- Klinefelter syndrome is the most common sex-chromosome abnormality, affecting about one in every 500 to 700 men. What causes Klinefelter syndrome? The addition of extra chromosomes seems to occur by chance. The syndrome is not inherited from the parents. The addition occurs in the sperm, the egg, or after conception. What are the signs and symptoms of Klinefelter syndrome? Signs and symptoms can vary.
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Klinefelter Syndrome Klinefelter syndrome is a genetic condition that occurs in males when they have an extra X chromosome. Most people have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The 2 sex chromosomes (X and Y) determine if you become a boy or a girl. Girls normally have 2 X chromosomes. Boys normally have 1 X and 1 Y chromosome. Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. Usually, this occurs due to 1 extra X. This is written as XXY. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Symptoms may include any of the following: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size)
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- Klinefelter Syndrome is not caused by genes but is rather caused by  chromosomal nondisjunction, or an odd number of chromosomes.  Klinefelter Syndrome is particularly the p … resence of more than one  X chromosome in a male's karyotype in addition to one Y chromosome  (normal males have one X and one Y).Typically, a Klinefelter  patient will feature the XXY karyotype, although the presence of  additional X chromosomes has been reported.Klinefelter Syndrome is particularly the p … resence of more than one  X chromosome in a male's karyotype in addition to one Y chromosome  (normal males have one X and one Y).
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- Waardenburg Syndrome Due to PAX3 Mutations - Waardenburg Syndrome Due to PAX3 Mutations Waardenburg Syndrome was discovered in 1951 by a Dutch opthamologist, Petrus Johannes Waardenburg. He observed that often people with two different colored eyes also had hearing problems.
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- Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations (955 gly glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the α 2 strand of collagen type XI.
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Does Donald Trump have Klinefelterâs syndrome? The condition, called Klinefelter syndrome, is not uncommon–it occurs in somewhere from 0.1% to 0.2% of males. Aside from having an extra X chromosome, these are symptoms of Klinefelter syndrome: Abnormal body proportions (long legs, short trunk, shoulder equal to hip size)
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Medical biology Disoerder of Cell disjunction klinefelter syndrome Created by : Universitas diponegoro Medical faculty 2012/2013 Medical biology Disoerder of Cell disjunction klinefelter syndrome Created by : Universitas diponegoro Medical faculty 2012/2013. follicle stimulating hormone (FSH). But. and luteinizing hormone (LH). and each extra X is associated . 46.CHAPTER 1 A. gynecomastia.000 male births. around age 12 years.
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Werner syndrome He assumed the cause to be genetic, though most of his evidence was clinical. Between 1934 and 1941, two internists from New York, Oppenheimer and Kugel, coined the term Werner Syndrome, igniting a wave of interest and research on the disease.
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- We are reporting a case of indolent foot and leg ulcers in Klinefelter's syndrome associated with straight back syndrome. A 30 - year-old married man was admitted with non healing ulcers on both feet and legs of about 6 months duration [Figure - 1].
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- Klinefelter syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People typically have two sex chromosomes in each cell: females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY).
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Learning About Klinefelter Syndrome What are the symptoms of Klinefelter syndrome? How is Klinefelter syndrome diagnosed? How is Klinefelter syndrome treated? NHGRI Clinical Research on Klinefelter Syndrome; Additional Resources for Klinefelter Syndrome; What is Klinefelter syndrome? Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility. Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person?s gender.
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Food_and_Nutritional_Toxicology Many boys with Klinefelter syndrome — also known as XXY syndrome — have no signs or symptoms, and some don't even know they have it until later in life. The XXY condition that causes Klinefelter syndrome can't be changed, but medical treatment and working with therapists can help a boy's development and help lessen the condition's effects.
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Overview Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
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Klinefelter syndrome Klinefelter syndrome is a chromosome disorder that affects males. Usually, a male has two chromosomes that determine his sex: an X inherited from his mother and a Y inherited from his father. A male with Klinefelter syndrome has an additional X chromosome.
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- Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms.
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Marburgvirus Cases of Marburgvirus continue to be rare and random, though most recently occurring in 2008 in Colorado of a man who had been traveling in Uganda.[7] The only other filovirus is the Ebola virus, which claims an even higher mortality rate, discovered after Marburg in 1976.[3] The natural origins of both remain a complete mystery to this day and a cause of major concern and research.[1]