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  • Institution/s: Rheinische Friedrich-Wilhelms-Universität Bonn, Universidad de Valladolid
  • Project: Diccionario Terminológico de Genética (Eurogene)
  • Identification number: 62
  • Subdomains: Studies of chromatin, Studies of DNA, Studies of RNA, Techniques
  • Author/s: Ana María ALCONCHEL SEBASTIÁN, Beatriz BURGOS CUADRILLERO, Inés PLAZA FONTANET, Patricia ROJO DE DOMINGO
  • Creation / modification date: 30-01-2014
  • Term: autosomal abnormality(ies)
  • Gramatical category: s
  • Definition: Non-sex linked disorders which affect the central nervous system and typically result in multiple physical abnormalities.
  • Context: In general, the sex-chromosome abnormalities produce less significant impairements than those involving autosmal abnormalities (e.g. Down syndrome, Edwards syndrome).
  • Notes: The three most common autosomal abnmormalities include Down (trisomy 21), Edwards (trisomy 18), and Patau (trisomy 13) syndromes.
  • Weighting mark: nor
  • Remission: anton, natural selection. Source: KENT, M. (2000). Advanced biology. Oxford: Oxford University Press.
  • Sources:
    • Term: FERRAND, M., FRAIPONT. A. & GANTIER. C. Les anomalies héréditaires des bovins laitiers. Repéré à : www.facmv.ulg.ac.be%2Fcours%2Fgenquant%2F29032004gr1.ppt&ei=7BF1UevlE4iA7Qa9noCYDg&usg=AFQjCNGkI7RUzw7HK47_07wJSrQQxFLp6A&bvm=bv.45512109,d.d2k&cad=rja
    • Definition: Les bases génétiques de la SEP. (2008). Repéré à http://www.fondation-charcot.org/ressource/static/files/frch5.pdf
    • Context: HULOT, F. (1970). Analyse chromosomique de deux procs intersexués (sus scrofa domesticus). Dans Annales de génétique et de sélection animale (2e édition 1970, 355-361).
    • Expression: REVERSAT, C. (2008). Le flat coated retriever (École Nationale Vétérinaire de Lyon, Université de Lyon, Lyon). Repéré à http://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=6&ved=0CGAQFjAF&url=http%3A%2F%2Fwww2.vetagro-sup.fr%2Fbib%2Ffondoc%2Fth_sout%2Fdl.php%3Ffile%3D2008lyon062.pdf&ei=AHhtUbvZEcKL0AXu5IGoCg&usg=AFQjCNGAjp2XwcRP1ZDAK2hs02ZpbAJTdw&sig2=T5DhBZc0hGzLR3FbbZy4TA&bvm=bv.45175338,d.d2k
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