Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.
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.
Serotkin
A
A
Division of Human Genetics, Schneider Children's Hospital, Long Island Jewish Medical Center, New Hyde Park, NY 11042.
Stamberg
J
J
Waber
L
L
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