Ring chromosome 8 syndrome

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).

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 1

                      


(per page)
PMID (PMCID)
1746890
FEMALE Infant
Ring chromosome 8 associated with microcephaly.
Mingarelli R, Valorani G, Zelante L, Dallapiccola B.
Ann Genet. 1991;34(2):90-2.
Ring chromosome 8 associated with microcephaly.