Article Text
Research Article
Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.
Abstract
We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q21.1----qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported. His features are strikingly suggestive of Ellis-van Creveld syndrome.