The dup(3)(p25 leads to pter) syndrome: a case with holoprosencephaly

Abstract

We report a patient with dup(3p) syndrome with holoprosencephaly. This infant is compared with 17 others reported previously with banding studies. In 72% of cases the duplication derived from a mother with a balanced translocation; 78% of affected individuals are males. The most common anomalies are characteristic facial changes, congenital heart defects, and hypoplasia of male genitalia. Holoprosencephaly has not been reported before in the dup(3p) syndrome.