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- 22q13_deletion_syndrome abstract "22q13 deletion syndrome (spoken as twenty-two q one three) is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion should be diagnosed as 22q13 deletion syndrome. 22q13 deletion syndrome is often placed in the more general category of Phelan-McDermid Syndrome (abbreviated PMS), which includes some mutations and microdeletions. The PMS name is less precise, since there is disagreement among researchers as to which variants belong in the PMS category. The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that excludes terminal deletions. This latter definition of PMS is incompatible with the definition of 22q13 deletion syndrome by those who first described 22q13 deletion syndrome.A prototypical terminal deletion of 22q13 can be uncovered by karyotype analysis, but many terminal and interstitial deletions are too small. The availability of DNA microarray technology for revealing multiple genetic problems simultaneously has been the diagnostic tool of choice. The falling cost for whole exome sequencing and, eventually, whole genome sequencing, may replace DNA microarray technology for candidate evaluation. However, fluorescence in situ hybridization (FISH) tests remain valuable for diagnosing cases of mosaicism (mosaic genetics) and chromosomal rearrangements (e.g., ring chromosome, unbalanced chromosomal translocation). Although early researchers sought a monogenic (single gene genetic disorder) explanation, recent studies have not supported that hypothesis (see Etiology, below).22q13 deletion syndrome is characterized by global developmental delay, absent or severely delayed speech, and neonatal hypotonia. There are approximately 1300 diagnosed cases of 22q13 deletion syndrome worldwide.".
- 22q13_deletion_syndrome icd10 "Q93".
- 22q13_deletion_syndrome meshId "C536801".
- 22q13_deletion_syndrome omim "606232".
- 22q13_deletion_syndrome wikiPageExternalLink alliance22.fr.
- 22q13_deletion_syndrome wikiPageExternalLink ).
- 22q13_deletion_syndrome wikiPageExternalLink www.22q13.org.
- 22q13_deletion_syndrome wikiPageID "6075481".
- 22q13_deletion_syndrome wikiPageLength "19551".
- 22q13_deletion_syndrome wikiPageOutDegree "39".
- 22q13_deletion_syndrome wikiPageRevisionID "705344715".
- 22q13_deletion_syndrome wikiPageWikiLink AMPA_receptor.
- 22q13_deletion_syndrome wikiPageWikiLink Autism_spectrum.
- 22q13_deletion_syndrome wikiPageWikiLink Base_pair.
- 22q13_deletion_syndrome wikiPageWikiLink Category:Pediatrics.
- 22q13_deletion_syndrome wikiPageWikiLink Category:Syndromes.
- 22q13_deletion_syndrome wikiPageWikiLink Chromosomal_translocation.
- 22q13_deletion_syndrome wikiPageWikiLink Chromosome_22_(human).
- 22q13_deletion_syndrome wikiPageWikiLink DNA_microarray.
- 22q13_deletion_syndrome wikiPageWikiLink DiGeorge_syndrome.
- 22q13_deletion_syndrome wikiPageWikiLink Dolichocephaly.
- 22q13_deletion_syndrome wikiPageWikiLink Epileptic_seizure.
- 22q13_deletion_syndrome wikiPageWikiLink Exome_sequencing.
- 22q13_deletion_syndrome wikiPageWikiLink Fluorescence_in_situ_hybridization.
- 22q13_deletion_syndrome wikiPageWikiLink Gastroesophageal_reflux_disease.
- 22q13_deletion_syndrome wikiPageWikiLink Genetic_disorder.
- 22q13_deletion_syndrome wikiPageWikiLink Hypotonia.
- 22q13_deletion_syndrome wikiPageWikiLink Induced_pluripotent_stem_cell.
- 22q13_deletion_syndrome wikiPageWikiLink Karyotype.
- 22q13_deletion_syndrome wikiPageWikiLink MAPK8IP2.
- 22q13_deletion_syndrome wikiPageWikiLink Macrocephaly.
- 22q13_deletion_syndrome wikiPageWikiLink MicroRNA.
- 22q13_deletion_syndrome wikiPageWikiLink Mosaic.
- 22q13_deletion_syndrome wikiPageWikiLink NMDA_receptor.
- 22q13_deletion_syndrome wikiPageWikiLink National_Institutes_of_Health.
- 22q13_deletion_syndrome wikiPageWikiLink Paternal_bond.
- 22q13_deletion_syndrome wikiPageWikiLink Phenotype.
- 22q13_deletion_syndrome wikiPageWikiLink Ptosis_(eyelid).
- 22q13_deletion_syndrome wikiPageWikiLink Ring_chromosome.
- 22q13_deletion_syndrome wikiPageWikiLink SHANK3.
- 22q13_deletion_syndrome wikiPageWikiLink Schizophrenia.
- 22q13_deletion_syndrome wikiPageWikiLink Thermoregulation.
- 22q13_deletion_syndrome wikiPageWikiLink Whole_genome_sequencing.
- 22q13_deletion_syndrome wikiPageWikiLink Category:Chromosomal_deletions.
- 22q13_deletion_syndrome wikiPageWikiLinkText "22q13 deletion syndrome".
- 22q13_deletion_syndrome wikiPageWikiLinkText "22q13.3 deletion syndrome".
- 22q13_deletion_syndrome wikiPageWikiLinkText "Phelan-McDermid syndrome (22q13del)".
- 22q13_deletion_syndrome wikiPageWikiLinkText "Phelan-McDermid syndrome".
- 22q13_deletion_syndrome diseasesdb "34793".
- 22q13_deletion_syndrome genereviewsname "Phelan-McDermid Syndrome".
- 22q13_deletion_syndrome genereviewsnbk "NBK1198".
- 22q13_deletion_syndrome icd "Q93".
- 22q13_deletion_syndrome meshid "536801.0".
- 22q13_deletion_syndrome name "22".
- 22q13_deletion_syndrome omim "606232".
- 22q13_deletion_syndrome orphanet "48652".
- 22q13_deletion_syndrome wikiPageUsesTemplate Template:Chromosomal_abnormalities.
- 22q13_deletion_syndrome wikiPageUsesTemplate Template:Cite_journal.
- 22q13_deletion_syndrome wikiPageUsesTemplate Template:DECIPHER.
- 22q13_deletion_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- 22q13_deletion_syndrome wikiPageUsesTemplate Template:Reflist.
- 22q13_deletion_syndrome subject Category:Pediatrics.
- 22q13_deletion_syndrome subject Category:Syndromes.
- 22q13_deletion_syndrome subject Category:Chromosomal_deletions.
- 22q13_deletion_syndrome hypernym Disorder.
- 22q13_deletion_syndrome type Disease.
- 22q13_deletion_syndrome type Pediatric.
- 22q13_deletion_syndrome type Specialty.
- 22q13_deletion_syndrome type Syndrome.
- 22q13_deletion_syndrome type Thing.
- 22q13_deletion_syndrome type Q12136.
- 22q13_deletion_syndrome comment "22q13 deletion syndrome (spoken as twenty-two q one three) is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion should be diagnosed as 22q13 deletion syndrome.".
- 22q13_deletion_syndrome label "22q13 deletion syndrome".
- 22q13_deletion_syndrome sameAs Q1926345.
- 22q13_deletion_syndrome sameAs متلازمة_الحذف_22q13.
- 22q13_deletion_syndrome sameAs Phelan-McDermid-Syndrom.
- 22q13_deletion_syndrome sameAs Síndrome_deleción_22q13.
- 22q13_deletion_syndrome sameAs Syndrome_délétion_22q13.3.
- 22q13_deletion_syndrome sameAs Sindrom_delecije_22q13.
- 22q13_deletion_syndrome sameAs Sindrom_delesi_22q13.
- 22q13_deletion_syndrome sameAs Syndroom_van_Phelan-McDermid.
- 22q13_deletion_syndrome sameAs Zespół_delecji_22q13.3.
- 22q13_deletion_syndrome sameAs m.0fnvc2.
- 22q13_deletion_syndrome sameAs Q1926345.
- 22q13_deletion_syndrome wasDerivedFrom 22q13_deletion_syndrome?oldid=705344715.
- 22q13_deletion_syndrome isPrimaryTopicOf 22q13_deletion_syndrome.
- 22q13_deletion_syndrome name "22q13 Deletion Syndrome".