Two Down syndrome patients with rec(21),dupq,inv(21)(p11;q2109) from a familial pericentric inversion.
Aneusomie de recombinaison arose from a familial pericentric inversion of a chromosome 21. Two female patients had a typical Down syndrome; one of them had slight psychomotor retardation. There was partial trisomy 21q2109----qter in these two patients but ZnCu SOD activity was normal.
D002648:Child; D007446:Chromosome Inversion; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D013482:Superoxide Dismutase / Q000097:blood
D013482:Superoxide Dismutase