Matches in DBpedia 2016-04 for { <http://wikidata.dbpedia.org/resource/Q1926345> ?p ?o }
Showing triples 1 to 51 of
51
with 100 triples per page.
- Q1926345 subject Q5881496.
- Q1926345 subject Q6500135.
- Q1926345 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.".
- Q1926345 icd10 "Q93".
- Q1926345 meshId "C536801".
- Q1926345 omim "606232".
- Q1926345 wikiPageExternalLink alliance22.fr.
- Q1926345 wikiPageExternalLink ).
- Q1926345 wikiPageExternalLink www.22q13.org.
- Q1926345 wikiPageWikiLink Q104053.
- Q1926345 wikiPageWikiLink Q133067.
- Q1926345 wikiPageWikiLink Q1336182.
- Q1926345 wikiPageWikiLink Q1436063.
- Q1926345 wikiPageWikiLink Q145911.
- Q1926345 wikiPageWikiLink Q1753547.
- Q1926345 wikiPageWikiLink Q18037257.
- Q1926345 wikiPageWikiLink Q18048003.
- Q1926345 wikiPageWikiLink Q189967.
- Q1926345 wikiPageWikiLink Q190259.
- Q1926345 wikiPageWikiLink Q200779.
- Q1926345 wikiPageWikiLink Q2068526.
- Q1926345 wikiPageWikiLink Q223591.
- Q1926345 wikiPageWikiLink Q295251.
- Q1926345 wikiPageWikiLink Q310899.
- Q1926345 wikiPageWikiLink Q390551.
- Q1926345 wikiPageWikiLink Q41112.
- Q1926345 wikiPageWikiLink Q414896.
- Q1926345 wikiPageWikiLink Q474261.
- Q1926345 wikiPageWikiLink Q525642.
- Q1926345 wikiPageWikiLink Q5420592.
- Q1926345 wikiPageWikiLink Q5881496.
- Q1926345 wikiPageWikiLink Q591745.
- Q1926345 wikiPageWikiLink Q622427.
- Q1926345 wikiPageWikiLink Q6279182.
- Q1926345 wikiPageWikiLink Q635339.
- Q1926345 wikiPageWikiLink Q6500135.
- Q1926345 wikiPageWikiLink Q674925.
- Q1926345 wikiPageWikiLink Q7144546.
- Q1926345 wikiPageWikiLink Q748758.
- Q1926345 wikiPageWikiLink Q753805.
- Q1926345 wikiPageWikiLink Q916504.
- Q1926345 icd "Q93".
- Q1926345 meshid "536801.0".
- Q1926345 name "22".
- Q1926345 omim "606232".
- Q1926345 type Disease.
- Q1926345 type Thing.
- Q1926345 type Q12136.
- Q1926345 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.".
- Q1926345 label "22q13 deletion syndrome".
- Q1926345 name "22q13 Deletion Syndrome".