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- Q2692054 subject Q6500135.
- Q2692054 subject Q8280462.
- Q2692054 abstract "1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1. Unique, the international rare chromosome disorder group, has 57 genetically confirmed registered cases of this duplication worldwide (October 2012).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.Next to the duplication syndrome, there is also a 1q21.1 deletion syndrome. While there are two or three copies of a similar part of the DNA on a particular spot with the duplication syndrome, there is a part of the DNA missing with the deletion syndrome on the same spot. Literature refers to both the deletion and the duplication as the 1q21.1 copy-number variations (CNV). The CNV leads to a very variable phenotype and the manifestations in individuals are quite variable. Some people who have the syndrome can function in a normal way, while others have symptoms of mental retardation and various physical anomalies.".
- Q2692054 omim "612475".
- Q2692054 thumbnail Chromosome_1_to_1q21.1.jpg?width=300.
- Q2692054 wikiPageExternalLink 1736.full.
- Q2692054 wikiPageExternalLink home.asp.
- Q2692054 wikiPageExternalLink 1q21.1%20microduplications%20FTNP.pdf.
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- Q2692054 name "1".
- Q2692054 omim "612475".
- Q2692054 type Disease.
- Q2692054 type Thing.
- Q2692054 type Q12136.
- Q2692054 comment "1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1. Unique, the international rare chromosome disorder group, has 57 genetically confirmed registered cases of this duplication worldwide (October 2012).In a common situation a human cell has one pair of identical chromosomes on chromosome 1.".
- Q2692054 label "1q21.1 duplication syndrome".
- Q2692054 depiction Chromosome_1_to_1q21.1.jpg.
- Q2692054 name "1q21.1 duplication syndrome".