Partial Trisomy 9q resulting from a familial translocation t(9;16)(q32;q24)

Abstract

Partial trisomy-9q was observed in an infant with a multiple malformation syndrome who survived to 18 mo. Cytogenetic investigations stimulated by the family history of similarly affected individuals revealed a translocation, t(9;16)(q32;q24), identifiable in 4 generations of the proband''s family. A review of the case with those reported in the literature reveals clinical similarities. This report sets forth a clinical description of the characteristic phenotype of the 9q partial trisomy syndrome including findings at postmortem, documentation of multigeneration transmission and discussion of this syndrome''s clinical overlap with other malformation syndromes.