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September 1980

Partial Trisomy 9q due to Maternal 9/17 Translocation

Author Affiliations

From the Departments of Paediatrics (Dr Aftimos) and Community Health (Mr Parslow), School of Medicine, University of Auckland, Private Bag, New Zealand, and the Institut für Humangenetik, University of Hamburg, Germany (Dr Hoo).

Am J Dis Child. 1980;134(9):848-850. doi:10.1001/archpedi.1980.02130210032009

• 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)