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

A. Serotkin, J. Stamberg, L. Waber

Research output: Contribution to journalArticle

15 Citations (Scopus)

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 - 1988

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Ellis-Van Creveld Syndrome
Mosaicism
Trisomy 17q22 Chromosome 17

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Duplication 17q mosaicism : An infant with features of Ellis-van Creveld syndrome. / Serotkin, A.; Stamberg, J.; Waber, L.

In: Journal of Medical Genetics, Vol. 25, No. 4, 1988, p. 258-260.

Research output: Contribution to journalArticle

Serotkin, A, Stamberg, J & Waber, L 1988, 'Duplication 17q mosaicism: An infant with features of Ellis-van Creveld syndrome', Journal of Medical Genetics, vol. 25, no. 4, pp. 258-260.
Serotkin, A. ; Stamberg, J. ; Waber, L. / Duplication 17q mosaicism : An infant with features of Ellis-van Creveld syndrome. In: Journal of Medical Genetics. 1988 ; Vol. 25, No. 4. pp. 258-260.
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