Aortic root dilatation associated with partial trisomy 7(q31.2→qter)
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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.
Key wordsMarfan syndrome Aortic root dilatation Trisomy 7
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- 4.Grouchy J de, Turleau C (1984)Clinical atlas of human chromosomes, 2nd edn. John Wiley and Sons, New York, pp 102–109Google Scholar
- 9.McKusick VA (1983)Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes, 6th edn. Johns Hopkins University Press, Baltimore, p 345Google Scholar