Ringkromosom 8 syndrom

Også kjent som: Chromosome 8‑derived supernumerary ring /marker
Engelsk navn: Ring chromosome 8 syndrome
Engelske synonym: Ring 8,Ring chromosome 8,r(8) syndrome


Definisjon

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.

Fra Orphanet

ORPHA: 1450
Klassifiseringsnivå: Disorder
ICD-10: Q93.2

Mer informasjon


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