title: Aortic root dilatation associated with partial trisomy 7(q31.2----qter).
abstract: Aortic root dilatation and mitral valve prolapse are cardiac findings sometimes seen in disorders of connective tissue, most often in the Marfan syndrome. This report describes an infant with these cardiac anomalies and a specific chromosomal abnormality, partial trisomy of chromosome 7 associated with partial monosomy of chromosome 22. This association may have significance with respect to the etiology of cardiac disease in connective tissue disorders such as Marfan syndrome.
authors.affiliation: Department of Pediatrics, Walter Reed Army Medical Center, Washington, DC 20307-5001.
authors.forename: K B
authors.initials: KB
authors.lastname: Roche
authors.forename: J W
authors.initials: JW
authors.lastname: Moore
authors.forename: R B
authors.initials: RB
authors.lastname: Surana
authors.forename: B E
authors.initials: BE
authors.lastname: Wilson
mesh_terms: D001013:Aorta, Thoracic / Q000002:abnormalities*; D002897:Chromosomes, Human, Pair 7; D004108:Dilatation, Pathologic / Q000235:genetics; D004200:Diseases in Twins; D004374:Ductus Arteriosus, Patent / Q000235:genetics; D004452:Echocardiography; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D014314:Trisomy