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Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome
A Serotkin1, J Stamberg, L Waber
1Division of Human Genetics, Schneider Children's Hospital, Long Island Jewish Medical Center, New Hyde Park, NY 11042.
Journal of Medical Genetics
|April 1, 1988
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.