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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rdf:type
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rdfs:label
| - Ring chromosome 14 syndrome
- Chromosome 14 en anneau
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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.
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foaf:name
| - Ring chromosome 14 syndrome
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name
| - Ring chromosome 14 syndrome
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caption
| - Formation of a ring chromosome.
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synonyms
| - Ring 14, Ring chromosome 14
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MeSH
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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.
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causes
| - Caused by a chromosomal abnormality
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diagnosis
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DiseasesDB
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ICD
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OMIM
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Orphanet
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symptoms
| - Seizures, intellectual disability
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treatment
| - Anticonvulsive medication
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DiseasesDB
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ICD10
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