A clinical syndrome associated with 5p duplication and 9p deletion

We have evaluated a sister and brother with a similar pattern of malformations and death in early childhood associated with partial duplication chromosome 5p and possibly deletion of 9p. The father and the brother and several paternal relatives are carriers of the balanced translocation t(5;9) (p13;p22). The malformations which the two have in common are: prominent forehead, flat nasal bridge, long thin fingers, bilateral equinovarus deformity of the feet, diaphragmatic hernia and kidney malformations. The children died at ages 4 months and 27 months, the latter showing marked psychomotor retardation. The chromosome abnormalities, clinical history, and phenotypic features of our patients are similar to the case reported by Monteleone et al (1976). The findings in our patients and Monteleone et al. (1976) are not similar to those in other reported cases of partial and complete 5q duplications, perhaps because the others do not have partial deletion of 9p.