16p122deletions译文



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16号12.2区染色体缺失

rarechromo.org

16号染色体缺失

A16p12.2microdeletionisararegeneticconditioncausedbyatinymissingpartofoneofthebody’s46chromosomes–chromosome16.Forhealthydevelopment,chromosomesshouldcontainjusttherightamountofmaterial–nottoomuchandnottoolittle.Evenatinypieceofmissingmaterialcandisruptdevelopment,althoughitdoesn’talwaysdoso.

16号12.2区微缺失是罕见的基因情况,是由人体46条染色体种16号染色体微小缺失引起。健康生长发育,染色体需要包含正常数量的遗传物质,不多也不能少。所以微小的遗传物质缺失会干预生长发育,但也有可能没有影响。

染色体知识

Chromosomesarestructuresfoundinthenucleusofthebody’scells.

Everychromosomecontainsthousandsofgenes,whichmaybethoughtofasindividualinstructionbooklets(orrecipes)thatcontainallthegeneticinformationtellingthebodyhowtodevelop,growandfunction.Chromosomes(andgenes)usually


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