Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation

Abstract

Morphologically similar chromosome anomalies, 8p+, were found in 2 inmates of an institution for the mentally retarded. Analysis of the G[Giemsa]- and R[reverse]-banding patterns showed that the 1st subject had a duplication of region p2 of chromosome 8; the 2nd subject had an insertion of an unidentified chromosome segment at 8p11. Both subjects were severely mentally retarded. The physical malformations were more severe in the 2nd subject than in the 1st, who had only minor signs. The dermatoglyphics are recorded.