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

A. Serotkin, J. Stamberg, L. Waber

Research output: Contribution to journalArticle

15 Scopus citations


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
Issue number4
StatePublished - Jan 1 1988


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this