You are here

Article Text

Article menu
Download PDFPDF
Research Article
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.

    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.

    https://doi.org/10.1136/jmg.25.4.258

    Statistics from Altmetric.com

      Request Permissions

      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.