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Chromosome 8-derived supernumerary ring/marker

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Chromosome 8 ring; Ring 8
SNOMED CT: Ring chromosome 8 syndrome (715983001); Chromosome 8 derived supernumerary ring (715983001)
Monarch Initiative: MONDO:0015443
Orphanet: ORPHA1450


A rare chromosomal anomaly from a variable part of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and intellectual disability overlapping with the well-known mosaic trisomy 8 syndrome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 8-derived supernumerary ring/marker

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