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Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy, genetic background, environmental factors, and random chance. Down syndrome can occur in all human populations, and analogous effects have been found in other species, such as chimpanzees and mice. In 2005, researchers have been able to create transgenic mice with most of human chromosome 21 (in addition to their normal chromosomes).

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  • علم النواة الخلوية للإنسان -يظهر هنا-. من كل كروموسوم يوجد نسختين. في الجزء السفلي الأيمن، هناك اختلافات بين كروموسومات الذكور( XY) و الإناث(XX), التي لا نهتم بها في هذه الحالة. النمط النووي للإنسان الطبيعي هو 46 كروموسوم(XX) للإناث أو 46 كروموسوم ( XY) للذكور. في هذا القسم، سوف نستخدم النمط النووي للإناث ( 46, XX). (ar)
  • Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy, genetic background, environmental factors, and random chance. Down syndrome can occur in all human populations, and analogous effects have been found in other species, such as chimpanzees and mice. In 2005, researchers have been able to create transgenic mice with most of human chromosome 21 (in addition to their normal chromosomes). A typical human karyotype is shown here. Every chromosome has two copies. In the bottom right, there are chromosomal differences between males (XY) and females (XX), which do not concern us. A typical human karyotype is designated as 46,XX or 46,XY, indicating 46 chromosomes with an XX arrangement for females and 46 chromosomes with an XY arrangement for males. For this article, we will use females for the karyotype designation (46,XX). (en)
  • Mosaicism för trisomi 21, även kallad trisomi 21-mosaik och Downs syndrom-mosaik är en kromosomavvikelse som innebär att den drabbade personen både har celler med en normal uppsättning av kromosomer och celler med tre kromosomer (så kallad trisomi). Förekomsten av olika uppsättningar av kromosomer/genotyper kallas mosaicism. En del anser att mosaik är en mildare form av Downs syndrom. Cirka 2 procent av alla personer med Downs syndrom har mosaik. Trisomi 21-mosaik kan uppstå på två sätt. Antingen på grund av nondisjunction under tidig celldelning, vilket leder till att några celler drabbas av trisomi 21. Det kan även uppstå genom att Downs syndrom börjar utvecklas hos embryot, men att vissa celler genom nondisjunction återgår till normalt kromosomarrangemang. (sv)
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  • علم النواة الخلوية للإنسان -يظهر هنا-. من كل كروموسوم يوجد نسختين. في الجزء السفلي الأيمن، هناك اختلافات بين كروموسومات الذكور( XY) و الإناث(XX), التي لا نهتم بها في هذه الحالة. النمط النووي للإنسان الطبيعي هو 46 كروموسوم(XX) للإناث أو 46 كروموسوم ( XY) للذكور. في هذا القسم، سوف نستخدم النمط النووي للإناث ( 46, XX). (ar)
  • Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy, genetic background, environmental factors, and random chance. Down syndrome can occur in all human populations, and analogous effects have been found in other species, such as chimpanzees and mice. In 2005, researchers have been able to create transgenic mice with most of human chromosome 21 (in addition to their normal chromosomes). (en)
  • Mosaicism för trisomi 21, även kallad trisomi 21-mosaik och Downs syndrom-mosaik är en kromosomavvikelse som innebär att den drabbade personen både har celler med en normal uppsättning av kromosomer och celler med tre kromosomer (så kallad trisomi). Förekomsten av olika uppsättningar av kromosomer/genotyper kallas mosaicism. En del anser att mosaik är en mildare form av Downs syndrom. Cirka 2 procent av alla personer med Downs syndrom har mosaik. (sv)
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  • الجينات في متلازمة داون (ar)
  • Genetics of Down syndrome (en)
  • Trisomi-mosaiksyndrom 21 (sv)
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