Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5) (p13.1----p15.3).

In this paper we report detailed autopsy data of a malformed male newborn with 5p trisomy due to a de novo inverted 5p duplication, inv dup (5)(p13.1----p15.3), and we compare these data with the findings in previous reports on 5p trisomy. Cerebral malformations, i.e. agenesis of corpus callosum, and Dandy-Walker cyst malformations, seem to be another characteristic finding in this partial autosomal duplication syndrome.