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Chromosome 8-derived supernumerary ring/marker

Disease definition

Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts 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 mental retardation overlapping with the well-known mosaic trisomy 8 syndrome (see this term).

ORPHA:1450

  • Synonym(s):
    • Ring chromosome 8
    • Supernumerary ring/marker 8
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q93.2
  • OMIM: -
  • UMLS: C2931633
  • MeSH: C537824
  • GARD: 1347
  • MedDRA: -

Additional information

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