Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1----p22).
A 24-year-old female with severe mental retardation, congenital malformations and dysmorphic features is described. 8p trisomy due to a de novo inv dup(8) (p21.1----p22) was found in her karyotype. Other published cases with 8p trisomy are reviewed.
D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D014314:Trisomy