Deletion of 1q in a patient with acrofacial dysostosis

Darrel J. Waggoner, David J. Ciske, S. Bruce Dowton, Michael S. Watson*

*Corresponding author for this work

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

The Nager syndrome is the most common form of acrofacial dysostosis. Although autosomal dominant and recessive forms of acrofacial dysostosis have been described the molecular etiology of these disorders is unknown. We report on a child with acrofacial dysostosis, critical aortic stenosis, and a deletion of chromosome 1q involving the heterochromatic block and adjacent euchromatin.

Original languageEnglish
Pages (from-to)301-304
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume82
Issue number4
DOIs
Publication statusPublished - 21 Feb 1999
Externally publishedYes

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