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  • Institution/s: Universidad de Valladolid
  • Project: Diccionario Terminológico de Genética (Eurogene)
  • Identification number: 98
  • Subdomains: Studies of chromatin, Studies of DNA, Studies of RNA, Techniques
  • Author/s: Ana MUÑOZ GASCÓN, Augustine Edith EMENE, Paloma MOLLEDO PÉREZ, Susana ALVAREZ ALVAREZ
  • Creation / modification date: 03-02-2014
  • Term: disomy
  • Gramatical category: s
  • Definition: An individual with a normal karyotype but in which two chromosomes are identical.
  • Context: Uniparental disomy represents a departure from the usual situation in which one member of each pair of chromosomes (called homologous chromosomes) is normally inherited from each parent. Thus, for each of the 23 pairs of human chromosomes, one is normally inherited from the father and the other from the mother.
  • Expression: Uniparental disomy (UPD)
  • Weighting mark: nor
  • Sources:
    • Term: EMERY, A.E.H. Y MUELLER, R.F. (1992) Elements of Medical Genetics, Churchill Livingstone: New York. 8th Edition. (p. 140)
    • Definition: EMERY, A.E.H. Y MUELLER, R.F. (1992) Elements of Medical Genetics, Churchill Livingstone: New York. 8th Edition. (p. 326)
    • Context: SHAFFER, L.G. et al. (2001) “American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy”. ACMG statement, 3 (3), p. 206
    • Expression: Genetics Home Reference. [online] Available at: http://ghr.nlm.nih.gov/handbook/inheritance/updimprinting
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