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111:- studied the number and appearance of chromosomes in the cells of children with and without Down syndrome, and in 1958 they found that children with Down syndrome possess 47 chromosomes: they carry three copies (trisomy) of one chromosome instead of the usual two (disomy). This chromosome was designated chromosome 21 in 1960.
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From 1931, Turpin and his team researched Down syndrome. He studied the clinical presentation of the disease in affected individuals, their ancestors, descendants and siblings. In 1937, he wrote: "The assumption that mongolism is connected with a chromosomal abnormality is acceptable (...) like the
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In 1947, Turpin founded the French
Genetics Society, of which he became president in 1954. He was appointed professor at the Faculty of Medicine of Paris, first in therapeutics (1947-1956), and then in infant health and medicine. He was elected president of the French Society of Pediatrics in 1960
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Turpin was admitted to the
Faculty of Medicine of Paris in 1914, and in 1915 he was mobilized as a military medical assistant. Three years later, he was seriously affected by poison gas, and was subsequently awarded the
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100:." In 1956, several teams established that the number of human chromosomes is 46, and it became possible to count the number of chromosomes in a sample in the laboratory.
83:. In 1929, tetany was the topic of his medical thesis, for which he won the Thesis Prize of the Faculty of Medicine. In this work, he highlighted a specific
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Turpin discovered, in 1959, the first structural chromosomal abnormality translocation, the second of the two main types of chromosomal abnormalities.
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sign of tetany. After being named head of the laboratory and clinical director, he became Doctor of the Paris
Hospitals in 1929.
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and participated in the creation of the first chair of genetics in 1965 which was initially entrusted to
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and geneticist. In the late 1950s, his team discovered the chromosomal abnormality,
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He also worked in pathology and pediatrics, including childhood
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Bar mutation, due to a chromosomal abnormality in the (fly)
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Couturier-Turpin MH. "La découverte de la trisomie 21".
76:, and continued the collaboration until 1933.
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184:Tijo JH, Levan A. "The chromosomes of man".
31:, died May 24, 1988, in Paris, was a French
103:From 1956 to 1958, Turpin - with students
221:Members of the French Academy of Sciences
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122:. He was also elected member of the
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132:Académie nationale de pharmacie
128:Académie Nationale de Médecine
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151:Site de l'Université Paris 5.
68:, in the first trials of the
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124:French Academy of Sciences
27:, born 5 November 1895 in
162:Notice de Raymond Turpin
60:, he participated, with
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20:Raymond Alexander Turpin
201:2005;55(12):1385-1389.
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199:La Revue du Praticien
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231:French pediatricians
66:Benjamin Weill-Hallé
226:French geneticists
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215:Categories
203:(Abstract)
138:References
98:drosophila
37:trisomy 21
186:Hereditas
165:Archived
130:and the
29:Pontoise
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