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- 1q21.1_duplication_syndrome 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.".
- 1q21.1_duplication_syndrome omim "612475".
- 1q21.1_duplication_syndrome thumbnail Chromosome_1_to_1q21.1.jpg?width=300.
- 1q21.1_duplication_syndrome wikiPageExternalLink 1685.
- 1q21.1_duplication_syndrome wikiPageExternalLink ng.279.html.
- 1q21.1_duplication_syndrome wikiPageExternalLink 1736.full.
- 1q21.1_duplication_syndrome wikiPageExternalLink home.asp.
- 1q21.1_duplication_syndrome wikiPageExternalLink 1q21.1%20microduplications%20FTNP.pdf.
- 1q21.1_duplication_syndrome wikiPageID "28409153".
- 1q21.1_duplication_syndrome wikiPageRevisionID "593620180".
- 1q21.1_duplication_syndrome hasPhotoCollection 1q21.1_duplication_syndrome.
- 1q21.1_duplication_syndrome name "1".
- 1q21.1_duplication_syndrome omim "612475".
- 1q21.1_duplication_syndrome subject Category:Autosomal_duplications.
- 1q21.1_duplication_syndrome subject Category:Syndromes.
- 1q21.1_duplication_syndrome type Disease.
- 1q21.1_duplication_syndrome type Situation.
- 1q21.1_duplication_syndrome 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.".
- 1q21.1_duplication_syndrome label "1q21.1 duplication syndrome".
- 1q21.1_duplication_syndrome label "1q21.1-duplicatiesyndroom".
- 1q21.1_duplication_syndrome sameAs 1q21.1-duplicatiesyndroom.
- 1q21.1_duplication_syndrome sameAs m.0crf9l9.
- 1q21.1_duplication_syndrome sameAs Q2692054.
- 1q21.1_duplication_syndrome sameAs Q2692054.
- 1q21.1_duplication_syndrome wasDerivedFrom 1q21.1_duplication_syndrome?oldid=593620180.
- 1q21.1_duplication_syndrome depiction Chromosome_1_to_1q21.1.jpg.
- 1q21.1_duplication_syndrome isPrimaryTopicOf 1q21.1_duplication_syndrome.
- 1q21.1_duplication_syndrome name "1q21.1 duplication syndrome".