A 7-year-old male was referred to our clinic for developmental and psychomotor delay. He was born after a normal gestation to a normal and healthy couple who were not consanguineous. He was born at term by natural delivery.

At the time of diagnosis his weight was 14.5 kg, his height was 100 cm, and his head circumstance was 49.5 cm. He had a prominent high forehead, maxillary hypoplasia, small mandible, widely spaced eyes, pectus excavatum, long fingers, undescended testes, small penis, reduced muscle tone, slender body, and was mentally and developmentally retarded (Figure 1). Both mother and father had an apparently normal phenotype with no history of major clinical abnormalities in their families.

Cytogenetic Study. Chromosome study was performed on a peripheral blood leukocyte culture according to standard protocols (9). The proband’s karyotype was 46,XY,der(4),t(2;4)(p21;q33) (Figure 2). The father’s karyotype was 46,XY,t(2;4)(p21:q33) (Figure 3), while the mother’s karyotype was normal. We concluded that the extra chromosomal material in the patient was derived from the father.