Deletion of 1q in a patient with acrofacial dysostosis.
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.
Waggoner
D J
DJ
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Ciske
D J
DJ
Dowton
S B
SB
Watson
M S
MS
D001024:Aortic Valve Stenosis / Q000235:genetics; D001132:Arm / Q000002:abnormalities / Q000000981:diagnostic imaging; D002843:Chromatin / Q000235:genetics; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging / Q000235:genetics*; D022041:Euchromatin; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D011859:Radiography
D002843:Chromatin; D022041:Euchromatin