A malformed girl with duplication of chromosome 9q

A case of a 1 year old girl with a duplication of the long arm of chromosome 9 is described: 46,XX,dir dup(9)(q12----q32). The clinical features of the child are strikingly similar to those of the two cases reported by Turleau et al and Faed et al. The similarity of the abnormalities may help in recognising this syndrome by its characteristic dysmorphic features.