About: Ring chromosome 14 syndrome     Goto   Sponge   NotDistinct   Permalink

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Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost allowing the now uncapped ends to fuse together forming a ring chromosome. It causes a number of serious health issues.

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rdfs:label
  • Ring chromosome 14 syndrome
  • Chromosome 14 en anneau
rdfs:comment
  • Le chromosome 14 en anneau est une aberration chromosomique extrêmement rare (moins de vingt cas publiés), notée r(14). Les manifestations en sont : * microcéphalie avec retard mental ; * hypotonie musculaire ; * dysmorphie cranio-faciale (dolichocéphalie, épicanthus, hypertélorisme, etc.) ; * vitiligo ou taches café au lait. * Portail de la médecine
  • Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost allowing the now uncapped ends to fuse together forming a ring chromosome. It causes a number of serious health issues.
foaf:name
  • Ring chromosome 14 syndrome
name
  • Ring chromosome 14 syndrome
foaf:depiction
  • External Image
foaf:isPrimaryTopicOf
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caption
  • Formation of a ring chromosome.
synonyms
  • Ring 14, Ring chromosome 14
MeSH
  • 535487.0
has abstract
  • Le chromosome 14 en anneau est une aberration chromosomique extrêmement rare (moins de vingt cas publiés), notée r(14). Les manifestations en sont : * microcéphalie avec retard mental ; * hypotonie musculaire ; * dysmorphie cranio-faciale (dolichocéphalie, épicanthus, hypertélorisme, etc.) ; * vitiligo ou taches café au lait. * Portail de la médecine
  • Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost allowing the now uncapped ends to fuse together forming a ring chromosome. It causes a number of serious health issues.
causes
  • Caused by a chromosomal abnormality
diagnosis
  • MRI, EEG
DiseasesDB
ICD
  • Q93.2
OMIM
Orphanet
symptoms
  • Seizures, intellectual disability
treatment
  • Anticonvulsive medication
DiseasesDB
  • 34753
ICD10
  • Q93.2
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