- 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: EMERY, A. (2009), Elementos de genética médica. Barcelona: Ed. Elsevier, 13ª Edición (revisión científica a cargo del Dr. Rafael Oliva Virgili).
- Definition: HERNÁNDEZ RODRÍGUEZ, Manuel (1994). Manual de Pediatría. Ediciones Díaz de Santos: Madrid. 2ª edición.
- Context: Región de Murcia. Consejería de Sanidad (2003). Memoria 2003. Extraido el 28 de abril de 2013 desde http://www.murciasalud.es/recursos/ficheros/76199-memoria2003.pdf
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