Partial trisomy 9q due to maternal 9/17 translocation

S. F. Aftimos, J. J. Hoo and M. I. Parslow

A patient with partial trisomy 9q due to material 9/17 translocation was studied and compared with four previously reported cases. The similarity of their clinical features allowed us to delineate a distinct clinical syndrome, which is characterized by psychomotor retardation, dolichocephaly, beaked nose, deep-seated eyes, and long fingers and toes. There is an overlap between some of the features of this syndrome and those of trisomy 9.