• A patient with partial trisomy 9q due to maternal 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, deepseated eyes, and long fingers and toes. There is an overlap between some of the features of this syndrome and those of trisomy 9.
(Am J Dis Child 134:848-850, 1980)
Aftimos SF, Hoo JJ, Parslow MI. Partial Trisomy 9q due to Maternal 9/17 Translocation. Am J Dis Child. 1980;134(9):848-850. doi:10.1001/archpedi.1980.02130210032009