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

An Entity of Type : yago:WikicatSyndromes, within Data Space : dbpedia.org associated with source document(s)

Type: ThingFuchs' dystrophyyago:WikicatCongenitalDisordersyago:Abnormality114501726yago:Abstraction100002137yago:Anomaly114505821yago:Attribute100024264yago:BirthDefect114465048yago:Cognition100023271yago:Complex105870365yago:Concept105835747yago:Condition113920835yago:Content105809192yago:Defect114464005yago:Disease114070360yago:GeneticDisease114151139yago:Idea105833840yago:IllHealth114052046yago:Illness114061805yago:Imperfection114462666yago:PathologicalState114051917yago:PhysicalCondition114034177yago:PsychologicalFeature100023100yago:WikicatGeneticDisordersdiseaseyago:State100024720yago:Syndrome105870790yago:Whole105869584yago:WikicatSyndromes New Facet based on Instances of this Class

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.