edugeneedugene2013
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  • Institution/s: Rheinische Friedrich-Wilhelms-Universität Bonn, Universidad de Alicante, Universidad de Valladolid
  • Project: Diccionario Terminológico de Genética (Eurogene)
  • Identification number: 172
  • Subdomains: Studies of chromatin, Studies of DNA, Studies of RNA, Techniques
  • Author/s: Augustine Edith EMENE, Beatriz BURGOS CUADRILLERO, Héctor BOLORINOS RUIZ, Verónica ARNÁIZ UZQUIZA
  • Creation / modification date: 01-02-2014
  • Term: abnormality –ies (See chromosomal abnormality)
  • Gramatical category: s
  • Definition: Rearrangement (deletion, duplication, inversion or translocation), or presence of an altered number of chromosomes (aneuploidy and polyploidy).
  • Context: The first evidence in vivo came from the analysis of replication timing of human chromosome 22 carrying a chromosomal abnormality frequently observed in pathologies such as cancer or genetic diseases.
  • Expression: Chromosomal abnormality , chromosome abnormality
  • Notes: Frequently replaced by the form “Chromosomal abnormality” in specialized contexts”. In lesser specialized texts the form “abnormality” has a general meaning (altered situation).
  • Weighting mark: nor
  • Sources:
    • Term: SCHAAF, Christian, ZSCHOCKE, Johannes (2013). Basiswissen Humangenetik. 2. Aufl. Berlin, Heidelberg: Springer Verlag, 118.
    • Definition: SCHAAF, Christian, ZSCHOCKE, Johannes (2013). Basiswissen Humangenetik. 2. Aufl. Berlin, Heidelberg: Springer Verlag, 118.
    • Context: SCHAAF, Christian, ZSCHOCKE, Johannes (2013). Basiswissen Humangenetik. 2. Aufl. Berlin, Heidelberg: Springer Verlag, 110-111.
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