Supernumerary small ring chromosome

Abstract

A supernumerary small ring chromosome was found in 30% of cultured peripheral leukocytes and 50% of skin fibroblasts in a 6-yr-old boy withmild mental retardation and midline cleft palate. The extra chromosome appeared to carry a densely staining region on Giemsa banding. The banding patterns of the remaining 46 chromosomes were normal. C banding indicated that the ring chromosome contained mainly centromeric constitutive heterochromatin. Chromosome analysis of both parents showed normal karyotypes by both conventional and banding techniques; thus the origin of the ring chromosome could not be determined.