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Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.
- Source :
- Journal of Medical Genetics; Apr1988, Vol. 25 Issue 4, p258-260, 3p, 1 Black and White Photograph
- Publication Year :
- 1988
-
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. [ABSTRACT FROM PUBLISHER]
Details
- Language :
- English
- ISSN :
- 00222593
- Volume :
- 25
- Issue :
- 4
- Database :
- Complementary Index
- Journal :
- Journal of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 66100161