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Chromosome 8-derived supernumerary ring /marker

Synonym(s) Ring chromosome 8
Supernumerary ring/marker 8
Prevalence -
Inheritance -
Age of onset -
  • Q93.2
  • C2931633
  • C537824
MedDRA -


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).

Expert reviewer(s)

  • Dr Catherine TURLEAU

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