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


    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.

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