Klaus Patau
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Klaus Patau
Klaus Patau (30 September 1908 – 30 November 1975; born Klaus Pätau; ) was a German-born American geneticist. He received his PhD from the University of Berlin in 1936, worked from 1938 to 1939 in London, and then returned to Germany, where he worked at the Kaiser Wilhelm Institute for Biology until 1947. He emigrated to the United States in 1948 and obtained American citizenship. In 1960 he first reported the extra chromosome in trisomy 13. The syndrome caused by trisomy 13 is often called Patau syndrome. It is also known as Bartholin-Patau syndrome, since the clinical picture associated with trisomy 13 was described by Thomas Bartholin in 1656. At the time, laboratory techniques were unable to distinguish between chromosomes of similar size, so chromosomes were grouped into seven groups by size, lettered A through G. Chromosomes 13 through 15 were in group D, so Patau originally named his eponymous syndrome "trisomy D". Patau was in the Department of Genetics at the Universi ...
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Geneticist
A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes or develop genetic technologies to aid in the pharmaceutical or and agriculture industries. Some geneticists perform experiments in model organisms such as ''Drosophila'', ''C. elegans'', zebrafish, rodents or humans and analyze data to interpret the inheritance of biological traits. A basic science geneticist is a scientist who usually has earned a PhD in genetics and undertakes research and/or lectures in the field. A medical geneticist is a physician who has been trained in medical genetics as a specialization and evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations; and provides genetic risk calculations and mutation analysis. Education Geneticists participate in courses from many are ...
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Kaiser Wilhelm Society
The Kaiser Wilhelm Society for the Advancement of Science (German: ''Kaiser-Wilhelm-Gesellschaft zur Förderung der Wissenschaften'') was a German scientific institution established in the German Empire in 1911. Its functions were taken over by the Max Planck Society. The Kaiser Wilhelm Society was an umbrella organisation for many institutes, testing stations, and research units created under its authority. Constitution The Kaiser Wilhelm Gesellschaft (KWG) was founded in 1911 in order to promote the natural sciences in Germany, by founding and maintaining research institutions formally independent from the state and its administrations. The institutions were to be under the guidance of prominent directors, which included the physicists and chemists Walther Bothe, Peter Debye, Albert Einstein, Fritz Haber and Otto Hahn; a board of trustees also provided guidance. Funding was ultimately obtained from sources internal and external to Germany. Internally, money was raised from ...
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Chromosome
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are the histones. These proteins, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity. These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation. Chromosomes are normally 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 happens, each chromosome is duplicated ( S phase), and both copies are joined by a centromere, resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. The joined copies are now called si ...
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Trisomy 13
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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Syndrome
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ...
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Patau Syndrome
Patau syndrome is a syndrome caused by a chromosome, chromosomal abnormality, in which some or all of the Cell (biology), cells of the body contain Trisomy, extra genetic material from chromosome 13 (human), chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or T13), or because each cell contains an extra partial copy of the chromosome, or because there are two different lines of cells—one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome—mosaicism, mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis (the mosaic form is caused by nondisjunction during mitosis). Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring incr ...
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Thomas Bartholin
Thomas Bartholin (; Onomastic Latinizatio, Latinized as ''Thomas Bartholinus''; 20 October 1616 – 4 December 1680) was a Denmark, Danish physician, mathematician, and theology, theologian. He is best known for his work in the discovery of the lymphatic system in humans and for his advancements of the theory of refrigeration anesthesia, being the first to describe it scientifically. Thomas Bartholin came from a family that has become famous for its pioneering scientists, twelve of whom became professors at the University of Copenhagen. Three generations of the Bartholin family made significant contributions to anatomical science and medicine in the 17th and 18th centuries: Thomas Bartholin's father, Caspar Bartholin the Elder (1585–1629), his brother Rasmus Bartholin (1625–1698), and his son Caspar Bartholin the Younger (1655–1738).Hill, Robert V. (2007"A Glimpse of Our Past – The contributions of the Bartholin family to the study and practice of clinical anatomy ...
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Johns Hopkins University Press
The Johns Hopkins University Press (also referred to as JHU Press or JHUP) is the publishing division of Johns Hopkins University. It was founded in 1878 and is the oldest continuously running university press in the United States. The press publishes books and journals, and operates other divisions including fulfillment and electronic databases. Its headquarters are in Charles Village, Baltimore. In 2017, after the retirement of Kathleen Keane who is credited with modernizing JHU Press for the digital age, the university appointed new director Barbara Pope. Overview Daniel Coit Gilman, the first president of the Johns Hopkins University, inaugurated the press in 1878. The press began as the university's Publication Agency, publishing the ''American Journal of Mathematics'' in its first year and the ''American Chemical Journal'' in its second. It published its first book, ''Sidney Lanier: A Memorial Tribute'', in 1881 to honor the poet who was one of the university's first writers ...
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University Of Wisconsin–Madison
A university () is an educational institution, institution of higher education, higher (or Tertiary education, tertiary) education and research which awards academic degrees in several Discipline (academia), academic disciplines. Universities typically offer both undergraduate education, undergraduate and postgraduate education, postgraduate programs. In the United States, the designation is reserved for colleges that have a graduate school. The word ''university'' is derived from the Latin ''universitas magistrorum et scholarium'', which roughly means "community of teachers and scholars". The first universities were created in Europe by Catholic Church monks. The University of Bologna (''Università di Bologna''), founded in 1088, is the first university in the sense of: *Being a high degree-awarding institute. *Having independence from the ecclesiastic schools, although conducted by both clergy and non-clergy. *Using the word ''universitas'' (which was coined at its foundation ...
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Eeva Therman
Eeva Maria Therman-Patau (1916–2004) was a Finnish-born American geneticist. She worked to characterize the effects and cytogenetics of trisomy 13 and trisomy 18, two rare and usually fatal genetic disorders caused by an extra copy of chromosome 13 and 18, respectively. Her works include ''Human Chromosomes: Structure, Behavior, Effects'', a textbook on cytogenetics which is in its 4th edition. Her research specialties included X-inactivation in mammals and chromosomal abnormalities in cancer. She received her PhD from the University of Helsinki in 1947. She emigrated to the United States in 1958, and shortly thereafter began to work as a research assistant in Klaus Patau's laboratory in the Department of Genetics at the University of Wisconsin–Madison A university () is an institution of higher (or tertiary) education and research which awards academic degrees in several academic disciplines. Universities typically offer both undergraduate and postgraduate progra ...
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John M
John is a common English name and surname: * John (given name) * John (surname) John may also refer to: New Testament Works * Gospel of John, a title often shortened to John * First Epistle of John, often shortened to 1 John * Second Epistle of John, often shortened to 2 John * Third Epistle of John, often shortened to 3 John People * John the Baptist (died c. AD 30), regarded as a prophet and the forerunner of Jesus Christ * John the Apostle (lived c. AD 30), one of the twelve apostles of Jesus * John the Evangelist, assigned author of the Fourth Gospel, once identified with the Apostle * John of Patmos, also known as John the Divine or John the Revelator, the author of the Book of Revelation, once identified with the Apostle * John the Presbyter, a figure either identified with or distinguished from the Apostle, the Evangelist and John of Patmos Other people with the given name Religious figures * John, father of Andrew the Apostle and Saint Peter * Pope Joh ...
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1908 Births
Nineteen or 19 may refer to: * 19 (number), the natural number following 18 and preceding 20 * one of the years 19 BC, AD 19, 1919, 2019 Films * ''19'' (film), a 2001 Japanese film * ''Nineteen'' (film), a 1987 science fiction film Music * 19 (band), a Japanese pop music duo Albums * ''19'' (Adele album), 2008 * ''19'', a 2003 album by Alsou * ''19'', a 2006 album by Evan Yo * ''19'', a 2018 album by MHD * ''19'', one half of the double album ''63/19'' by Kool A.D. * ''Number Nineteen'', a 1971 album by American jazz pianist Mal Waldron * ''XIX'' (EP), a 2019 EP by 1the9 Songs * "19" (song), a 1985 song by British musician Paul Hardcastle. * "Nineteen", a song by Bad4Good from the 1992 album '' Refugee'' * "Nineteen", a song by Karma to Burn from the 2001 album ''Almost Heathen''. * "Nineteen" (song), a 2007 song by American singer Billy Ray Cyrus. * "Nineteen", a song by Tegan and Sara from the 2007 album '' The Con''. * "XIX" (song), a 2014 song by Slipkn ...
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