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Deletion of 1q in a patient with acrofacial dysostosis

✍ Scribed by Waggoner, Darrel J.; Ciske, David J.; Dowton, S. Bruce; Watson, Michael S.

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
20 KB
Volume
82
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990212)82:4<301::aid-ajmg5>3.0.co;2-j

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✦ Synopsis

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. Am. J. Med. Genet. 82:301-304, 1999.

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