Deletion of 1q in a patient with acrofacial dysostosis.
作者信息
Waggoner D J, Ciske D J, Dowton S B, Watson M S
机构信息
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
出版信息
Am J Med Genet. 1999 Feb 12;82(4):301-4. doi: 10.1002/(sici)1096-8628(19990212)82:4<301::aid-ajmg5>3.0.co;2-j.
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.
摘要
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