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Hereditary diseases before genetics, ((-Mental diseases its hardly ever a…
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- Opostion: Peronce (1898-1912)
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- The banding technique made possible to identify the chromosomal anomalies
-Untill the 20 º century, Hereditary -> What can affect the development of the fetus
-Turpin, Gauter Lery(????) : “Mongolism” “feeble mindness” trissomy 21
-1960: Down´s syndorme, unsual number of chromosomes. Trisomy 21
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- 40´s and 50's : “aneuploidies” and “genetics diseases”
- Detection, before the brith of chromosomes anomalies
Diseases produced by changes in a single gene, became increasingly associated with syndromes
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Not everyone wants to know the diagnosis Diagnosis of a genetic disease is very important even it does not lead to a cure
Predict the disease development, and indicates appropriate medical, educational and psychological interventions
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Extended version of NIPT. Detects not only trisomy (21-13-18), but also abnormalities in sex chromosomes
- cultivation of fetal cells
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- Patricia Jacobs: klefefelter syndrome
-second world war: newborns death by anomalies, rubells and congenics anomalies
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- “Problems” during formation of gametes
- 40´s and 50's : “aneuploidies” and “genetics diseases”
- Detection, before the brith of chromosomes anomalies
- cultivation of fetal cells
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-Teratology: bith defects, preterm delivery (Warkany- 1902-1992)
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- Smith: Bieth Deficiency, Trisomy 13
- Epidemiological Studies: Thaliomide
• -1842-1928 , Doctors Shutt and Worth started to distinguish the mental deficiency from traumas, bith accidents (...) from the mental deficiency produces by “fomartive defects” before the birth.
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-1960: Down´s syndorme, unsual number of chromosomes. Trisomy 21
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- Disformology: Internal and External . Exemple: cleft palate problems
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- Process of “geneticization” of inborn pathologies
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