Deletion of 1q in a patient with acrofacial dysostosis

The Nager syndrome is the most common form of acrofacial dysostosis. Althou gh autosomal dominant and recessive forms of acrofacial dysostosis have bee n described the molecular etiology of these disorders is unknown. We report on a child with acrofacial dysostosis, critical aortic stenosis, and a del etion of chromosome 1q involving the heterochromatic block and adjacent euc hromatin. Am. J. Med. Genet. 82:301-304, 1999. (C) 1999 Wiley-Liss, Inc.