Roche K B, Moore J W, Surana R B, Wilson B E
Department of Pediatrics, Walter Reed Army Medical Center, Washington, DC 20307-5001.
Pediatr Cardiol. 1989 Winter;10(1):53-5. doi: 10.1007/BF02328637.
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.
主动脉根部扩张和二尖瓣脱垂是有时在结缔组织疾病中出现的心脏表现，最常见于马方综合征。本报告描述了一名患有这些心脏异常以及一种特定染色体异常的婴儿，即7号染色体部分三体与22号染色体部分单体相关联。这种关联对于诸如马方综合征等结缔组织疾病中心脏病的病因学可能具有重要意义。
