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Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/1q21.1_duplication_syndrome> ?p ?o }

• 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 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 wikiPageLength "14437".
• 1q21.1_duplication_syndrome wikiPageOutDegree "64".
• 1q21.1_duplication_syndrome wikiPageRevisionID "658895491".
• 1q21.1_duplication_syndrome wikiPageWikiLink 1q21.1_deletion_syndrome.
• 1q21.1_duplication_syndrome wikiPageWikiLink 22q13_deletion_syndrome.
• 1q21.1_duplication_syndrome wikiPageWikiLink ACP6.
• 1q21.1_duplication_syndrome wikiPageWikiLink ADHD.
• 1q21.1_duplication_syndrome wikiPageWikiLink ANKRD35.
• 1q21.1_duplication_syndrome wikiPageWikiLink Affymetrix_GeneChip_Operating_Software.
• 1q21.1_duplication_syndrome wikiPageWikiLink Ape.
• 1q21.1_duplication_syndrome wikiPageWikiLink Apes.
• 1q21.1_duplication_syndrome wikiPageWikiLink Attention_deficit_hyperactivity_disorder.
• 1q21.1_duplication_syndrome wikiPageWikiLink Autism.
• 1q21.1_duplication_syndrome wikiPageWikiLink Autosomal_dominant.
• 1q21.1_duplication_syndrome wikiPageWikiLink BCL9.
• 1q21.1_duplication_syndrome wikiPageWikiLink Brain.
• 1q21.1_duplication_syndrome wikiPageWikiLink CD160.
• 1q21.1_duplication_syndrome wikiPageWikiLink CHD1L.
• 1q21.1_duplication_syndrome wikiPageWikiLink Category:Autosomal_duplications.
• 1q21.1_duplication_syndrome wikiPageWikiLink Category:Syndromes.
• 1q21.1_duplication_syndrome wikiPageWikiLink Chromosomal_inversion.
• 1q21.1_duplication_syndrome wikiPageWikiLink Chromosomal_translocation.
• 1q21.1_duplication_syndrome wikiPageWikiLink Chromosome_1.
• 1q21.1_duplication_syndrome wikiPageWikiLink Chromosome_16.
• 1q21.1_duplication_syndrome wikiPageWikiLink Chromosome_16_(human).
• 1q21.1_duplication_syndrome wikiPageWikiLink Chromosome_1_(human).
• 1q21.1_duplication_syndrome wikiPageWikiLink Chromosome_22.
• 1q21.1_duplication_syndrome wikiPageWikiLink Chromosome_22_(human).
• 1q21.1_duplication_syndrome wikiPageWikiLink Copy-number_variation.
• 1q21.1_duplication_syndrome wikiPageWikiLink Copy_number_variation.
• 1q21.1_duplication_syndrome wikiPageWikiLink DUF1220.
• 1q21.1_duplication_syndrome wikiPageWikiLink Deletion_(genetics).
• 1q21.1_duplication_syndrome wikiPageWikiLink DiGeorge_syndrome.
• 1q21.1_duplication_syndrome wikiPageWikiLink Dominance_(genetics).
• 1q21.1_duplication_syndrome wikiPageWikiLink FMO5.
• 1q21.1_duplication_syndrome wikiPageWikiLink Fluorescence_in_situ_hybridization.
• 1q21.1_duplication_syndrome wikiPageWikiLink GJA5.
• 1q21.1_duplication_syndrome wikiPageWikiLink GJA8.
• 1q21.1_duplication_syndrome wikiPageWikiLink GPR89A.
• 1q21.1_duplication_syndrome wikiPageWikiLink GPR89B.
• 1q21.1_duplication_syndrome wikiPageWikiLink Gene_duplication.
• 1q21.1_duplication_syndrome wikiPageWikiLink HYDIN2.
• 1q21.1_duplication_syndrome wikiPageWikiLink Hemojuvelin.
• 1q21.1_duplication_syndrome wikiPageWikiLink Hypertelorism.
• 1q21.1_duplication_syndrome wikiPageWikiLink ITGA10.
• 1q21.1_duplication_syndrome wikiPageWikiLink LIX1L.
• 1q21.1_duplication_syndrome wikiPageWikiLink Lysophosphatidic_acid_phosphatase_type_6.
• 1q21.1_duplication_syndrome wikiPageWikiLink Macrocephaly.
• 1q21.1_duplication_syndrome wikiPageWikiLink Mammal.
• 1q21.1_duplication_syndrome wikiPageWikiLink Mammals.
• 1q21.1_duplication_syndrome wikiPageWikiLink Meiosis.
• 1q21.1_duplication_syndrome wikiPageWikiLink Microcephaly.
• 1q21.1_duplication_syndrome wikiPageWikiLink NUDT17.
• 1q21.1_duplication_syndrome wikiPageWikiLink Neocortex.
• 1q21.1_duplication_syndrome wikiPageWikiLink Neuron.
• 1q21.1_duplication_syndrome wikiPageWikiLink PDZK1.
• 1q21.1_duplication_syndrome wikiPageWikiLink PEX11B.
• 1q21.1_duplication_syndrome wikiPageWikiLink PIAS3.
• 1q21.1_duplication_syndrome wikiPageWikiLink POLR3C.
• 1q21.1_duplication_syndrome wikiPageWikiLink POLR3GL.
• 1q21.1_duplication_syndrome wikiPageWikiLink PRKAB2.
• 1q21.1_duplication_syndrome wikiPageWikiLink Phelan-McDermid_syndrome.
• 1q21.1_duplication_syndrome wikiPageWikiLink Phenotype.
• 1q21.1_duplication_syndrome wikiPageWikiLink Protein.
• 1q21.1_duplication_syndrome wikiPageWikiLink RBM8A.
• 1q21.1_duplication_syndrome wikiPageWikiLink RNF115.
• 1q21.1_duplication_syndrome wikiPageWikiLink Schizophrenia.
• 1q21.1_duplication_syndrome wikiPageWikiLink TXNIP.
• 1q21.1_duplication_syndrome wikiPageWikiLink Tetralogy_of_Fallot.
• 1q21.1_duplication_syndrome wikiPageWikiLink Velo-cardio-facial_syndrome.
• 1q21.1_duplication_syndrome wikiPageWikiLink ZNF364.
• 1q21.1_duplication_syndrome wikiPageWikiLink File:Chromosome_1_to_1q21.1.jpg.
• 1q21.1_duplication_syndrome wikiPageWikiLink File:Relation_1q21_1.jpg.
• 1q21.1_duplication_syndrome wikiPageWikiLinkText "1q21.1 duplication syndrome".
• 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 wikiPageUsesTemplate Template:Chromosomal_abnormalities.
• 1q21.1_duplication_syndrome wikiPageUsesTemplate Template:Cite_journal.
• 1q21.1_duplication_syndrome wikiPageUsesTemplate Template:DECIPHER.
• 1q21.1_duplication_syndrome wikiPageUsesTemplate Template:Infobox_disease.
• 1q21.1_duplication_syndrome wikiPageUsesTemplate Template:Refbegin.
• 1q21.1_duplication_syndrome wikiPageUsesTemplate Template:Refend.
• 1q21.1_duplication_syndrome wikiPageUsesTemplate Template:Reflist.
• 1q21.1_duplication_syndrome subject Category:Autosomal_duplications.
• 1q21.1_duplication_syndrome subject Category:Syndromes.
• 1q21.1_duplication_syndrome hypernym Aberration.
• 1q21.1_duplication_syndrome type Disease.
• 1q21.1_duplication_syndrome type Syndrome.
• 1q21.1_duplication_syndrome type Thing.
• 1q21.1_duplication_syndrome type Q12136.
• 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".

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