Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation

The case is described of a malformed girl with partial trisomy for a segment of the long arm of chromsome (4q32 leads to qter) due to an unfavourable segregation of a maternal reciprocal translocation t(4;21) (q32q22). The clinical comparison between the child and patients previously described by other authors does not suggest the existence of a syndrome associated with trisomy 4q+.