Partial trisomy 4q resulting from a familial 4/3 translocation

A case of trisomy 4q resulting from a balanced paternal translocation is described. Phenotypic similarity of cases with similar break points included hypoplastic nasal alae, short philtrum and pursed lips, and prominent ears. The birth of the proband was preceded by unexplained infertility, oligospermia in the father, and increased fetal wastage. Each of these features is an appropriate indication for cytogenetic analysis. If such an analysis had been done, the unbalanced translocation state in a liveborn, handicapped child could have been anticipated.