Duplication 17q mosaicism: An infant with features of Ellis-van Creveld syndrome

A. Serotkin, J. Stamberg, L. Waber

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Abstract

We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q2·1→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.

Original languageEnglish (US)
Pages (from-to)258-260
Number of pages3
JournalJournal of medical genetics
Volume25
Issue number4
StatePublished - Jan 1 1988

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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