Pediatric Cardiology

, Volume 10, Issue 1, pp 53–55 | Cite as

Aortic root dilatation associated with partial trisomy 7(q31.2→qter)

  • K. B. Roche
  • John W. Moore
  • Rawatal B. Surana
  • Bruce E. Wilson


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 words

Marfan syndrome Aortic root dilatation Trisomy 7 


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  1. 1.
    Byers PH, Siegel RC, Peterson KE, et al. (1981) Marfan syndrome: abnormal alpha-2 chain in type I collagen.Proc Natl Acad Sci USA 78:7745–7749PubMedGoogle Scholar
  2. 2.
    Couzin A, Haites N, Watt JL, Johnston AW (1986) Partial trisomy 7 (q32→qter) and syndrome in two children.J Med Genet 23:461–465PubMedGoogle Scholar
  3. 3.
    DeCicco F, Steele MW, Pan S, Park SC (1973) Monosomy of chromosome no. 22: a case report.J Pediatr 83:836–838PubMedGoogle Scholar
  4. 4.
    Grouchy J de, Turleau C (1984)Clinical atlas of human chromosomes, 2nd edn. John Wiley and Sons, New York, pp 102–109Google Scholar
  5. 5.
    Henry WL, Ware J, Gardin JM, Hepner SI, McKay J, Weiner M (1978) Echocardiographic measurements in normal subjects: growth-related changes that occur between infancy and early adulthood.Circulation 57:278–285PubMedGoogle Scholar
  6. 6.
    Junien C, Weil D, Myers JC, et al. (1982) Assignment of the human pro-alpha (I) collagen structural gene (COLIA2) to chromosome 7 by molecular hypridization.Am J Hum Genet 34:381–387PubMedGoogle Scholar
  7. 7.
    Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett HH (1982) The association of the DiGeorge anomolad with partial monosomy of chromosome 22.J Pediatr 101:197–200PubMedGoogle Scholar
  8. 8.
    Kukharenko VI, Delvig AA, Grinberg KN (1984) Disturbances in collagen synthesis in trisomic cells from spontaneously aborted embryos.Hum Genet 68:269–271CrossRefPubMedGoogle Scholar
  9. 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
  10. 10.
    Pyeritz RE, McKusick VA (1979) The Marfan syndrome: diagnosis and management.N Engl J Med 300:772–776PubMedGoogle Scholar
  11. 11.
    Sisk HE, Zahka KG, Pyeritz RE (1983) The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age.Am J Cardiol 52:353–358CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag New York Inc 1989

Authors and Affiliations

  • K. B. Roche
    • 1
  • John W. Moore
    • 1
  • Rawatal B. Surana
    • 2
  • Bruce E. Wilson
    • 1
  1. 1.Department of Pediatrics and the Section of Pediatric CardiologyWalter Reed Army Medical CenterWashington, DC
  2. 2.Department of Pediatric PathologyArmed Forces Institute of PathologyWashington, DCUSA

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