VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2)

This paper describes a patient with a de novo inverted duplication of chromosome 8(q13-q21.2). He tvas born with a ventricular septum defect, glandular hypospadias and protruding ears. At the age of 5 1/2 pears he had normal psychomotor development. Review of the literature on partial duplications of sq reveals that the associated phenotype may be mild. Normal psychomotor development, as in our patient. however appears to be uncommon.