Trisomy 4p in four relatives: variability and lack of distinctive features in phenotypic expression

We report two brothers and two second cousins with 4p trisomy secondary to a familial translocation t(4;7) (pl2;q36). A comparison of their physical features demonstrates the variability of clinical manifestations associated with this chromosome abnormality. While previous authors have emphasized the distinctiveness of the 4p trisomy syndrome, the variability seen in the affected relatives in this family suggests that trisomy 4p is one of the less distinctive chromosomal syndromes. Further comparison of our patients with the previously reported cases of 4p trisomy and with two cases whose chromosomal breakpoints were similar confirms this variability. Studies of phenotype/karyotype correlations in affected relatives provides the best opportunity to determine the phenotypic consequences of a specific (that is, identical) translocation. Studies of unrelated persons are complicated by the effects of different breakpoints and of possible partial deletions.