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- 22q13_deletion_syndrome abstract "22q13 Deletion syndrome (spoken as twenty-two q thirteen), also known as Phelan-McDermid syndrome (abbreviated PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Some terminal deletions can be uncovered by karyotype analysis, but many terminal and interstitial deletions are too small (microdeletions). The availability of DNA microarray technology, and microarray's utility in looking for multiple genetic problems simultaneously, have made this technology the diagnostic tool of choice. However, fluorescence in situ hybridization (FISH) tests are valuable for diagnosing cases of mosaicism (mosaic genetics) and chromosomal rearrangements (e.g., ring chromosome, unbalanced chromosomal translocation). Although early researchers sought a monogenetic (single gene genetic disorder) explanation, recent studies have not supported that hypothesis (see Etiology, below).Phelan-McDermid syndrome is characterized by global developmental delay, absent or severely delayed speech, and neonatal hypotonia. There are approximately 600 reported cases of Phelan-McDermid syndrome worldwide.".
- 22q13_deletion_syndrome icd10 "Q93".
- 22q13_deletion_syndrome omim "606232".
- 22q13_deletion_syndrome wikiPageExternalLink alliance22.fr.
- 22q13_deletion_syndrome wikiPageExternalLink pmidlookup?view=long&pmid=15286229.
- 22q13_deletion_syndrome wikiPageExternalLink ).
- 22q13_deletion_syndrome wikiPageExternalLink www.22q13.org.
- 22q13_deletion_syndrome wikiPageID "6075481".
- 22q13_deletion_syndrome wikiPageRevisionID "605403132".
- 22q13_deletion_syndrome hasPhotoCollection 22q13_deletion_syndrome.
- 22q13_deletion_syndrome icd "Q93".
- 22q13_deletion_syndrome name "22".
- 22q13_deletion_syndrome omim "606232".
- 22q13_deletion_syndrome wordnet_type synset-disease-noun-1.
- 22q13_deletion_syndrome subject Category:Autosomal_monosomies_and_deletions.
- 22q13_deletion_syndrome subject Category:Pediatrics.
- 22q13_deletion_syndrome subject Category:Syndromes.
- 22q13_deletion_syndrome type Disease.
- 22q13_deletion_syndrome type AilmentCondition.
- 22q13_deletion_syndrome type Situation.
- 22q13_deletion_syndrome comment "22q13 Deletion syndrome (spoken as twenty-two q thirteen), also known as Phelan-McDermid syndrome (abbreviated PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Some terminal deletions can be uncovered by karyotype analysis, but many terminal and interstitial deletions are too small (microdeletions).".
- 22q13_deletion_syndrome label "22q13 deletion syndrome".
- 22q13_deletion_syndrome label "Phelan-McDermid-Syndrom".
- 22q13_deletion_syndrome label "Syndrome délétion 22q13.3".
- 22q13_deletion_syndrome label "Syndroom van Phelan-McDermid".
- 22q13_deletion_syndrome label "Síndrome deleción 22q13".
- 22q13_deletion_syndrome label "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_delesi_22q13.
- 22q13_deletion_syndrome sameAs Syndroom_van_Phelan-McDermid.
- 22q13_deletion_syndrome sameAs m.0fnvc2.
- 22q13_deletion_syndrome sameAs Q1926345.
- 22q13_deletion_syndrome sameAs Q1926345.
- 22q13_deletion_syndrome wasDerivedFrom 22q13_deletion_syndrome?oldid=605403132.
- 22q13_deletion_syndrome isPrimaryTopicOf 22q13_deletion_syndrome.
- 22q13_deletion_syndrome name "22q13 Deletion Syndrome".