title: 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.
authors: Division of Human Genetics, Schneider Children's Hospital, Long Island Jewish Medical Center, New Hyde Park, NY 11042.
authors: A
authors: A
authors: Serotkin
authors: J
authors: J
authors: Stamberg
authors: L
authors: L
authors: Waber
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D010641:Phenotype