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 del...

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Veröffentlicht in:	American journal of medical genetics 1999-02, Vol.82 (4), p.301-304
Hauptverfasser:	Waggoner, Darrel J., Ciske, David J., Dowton, S. Bruce, Watson, Michael S.
Format:	Artikel
Sprache:	eng
Schlagworte:	acrofacial dysostosis Aortic Valve Stenosis - genetics Arm - abnormalities Arm - diagnostic imaging Biological and medical sciences Chromatin - genetics chromosome 1 chromosome 1q Chromosome Deletion Chromosomes, Human, Pair 1 - genetics Craniofacial Dysostosis - diagnostic imaging Craniofacial Dysostosis - genetics critical aortic stenosis Diseases of the osteoarticular system Euchromatin Hand Deformities, Congenital - genetics Humans In Situ Hybridization, Fluorescence Infant Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Nager's syndrome Radiography Tropical medicine
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Beschreibung
Zusammenfassung:	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. © 1999 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19990212)82:4<301::AID-AJMG5>3.0.CO;2-J