A case of partial monosomy 21q22.2 associated with Rieger's syndrome.

Abstract

A deleted chromosome 21 is reported in a mentally retarded girl with prominent occiput, high nasal bridge, downward slanting eyes, enophthalmus, atresia of the right lacrimal duct, displaced anal opening, and supernumerary ribs. Cytogenetic investigation of cultured lymphocytes and skin fibroblasts revealed a deletion of the long arm of chromosome 21 at sub-band q22.2 with satellites on both arms. Normal SOD-1 activity confirmed the breakpoint to be distal to band q22.1.