About: 1q21.1 duplication syndrome     Goto   Sponge   NotDistinct   Permalink

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1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1. In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 duplication syndrome one chromosome of the pair is over complete, because a part of the sequence of the chromosome is duplicated twice or more. In 1q21.1, the '1' stands for chromosome 1, the 'q' stands for the long arm of the chromosome and '21.1' stands for the part of the long arm in which the duplication is situated.

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  • 1q21.1 duplication syndrome
  • 1q21.1-duplicatiesyndroom
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  • 1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1. In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 duplication syndrome one chromosome of the pair is over complete, because a part of the sequence of the chromosome is duplicated twice or more. In 1q21.1, the '1' stands for chromosome 1, the 'q' stands for the long arm of the chromosome and '21.1' stands for the part of the long arm in which the duplication is situated.
  • Het 1q21.1-duplicatiesyndroom is een zeldzame afwijking van chromosoom 1. Normaal bevat een menselijke cel één paar identieke chromosomen van chromosoom 1. Bij 1q21.1-duplicatiesydroom is één chromosoom van het paar chromosomen overcompleet, doordat delen van de sequentie van het chromosoom dubbel of driemaal voorkomen op eenzelfde locatie. Een van de chromosomen heeft daardoor de normale lengte en het andere is te lang. Unique, de internationale vereniging van mensen met een zeldzame chromosoomafwijking, kent 57 geregistreerde gevallen van deze duplicatie wereldwijd (oktober 2012).
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  • 1q21.1 duplication syndrome
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