Hostname: page-component-cd9895bd7-fscjk Total loading time: 0 Render date: 2024-12-26T06:05:54.319Z Has data issue: false hasContentIssue false
  • English
  • Français

Diagnostic challenges of Marfan syndrome in an XYY young man

Published online by Cambridge University Press:  04 November 2011

Ana Lebreiro ,
Elisabete Martins ,
José Carlos Machado  and
Cassiano Abreu-Lima
Ana Lebreiro*
Affiliation:
Cardiology Department, Hospital São João, Porto, Portugal
Elisabete Martins
Affiliation:
Cardiology Department, Hospital São João, Porto, Portugal Medicine Department, University of Porto Medical School, Porto, Portugal
José Carlos Machado
Affiliation:
Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal
Cassiano Abreu-Lima
Affiliation:
Medicine Department, University of Porto Medical School, Porto, Portugal
*
Correspondence to: Dr Ana Margarida Lebreiro, MD, MsC, Hospital de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal. Tel: +351966895567; Fax: +351225503015; E-mail: ana.lebreiro@gmail.com
Get access Rights & Permissions [Opens in a new window]

Abstract

Tall stature is a common feature of both Marfan syndrome and XYY syndrome. Differential diagnosis between these entities has important prognostic implications. We report the case of a 21-year-old young man with a previously known diagnosis of XYY syndrome, in whom the identification of a fibrilin-1 mutation was determinant to establish an appropriate diagnosis, medical follow-up, and genetic counselling.

Keywords

Tall staturemolecular diagnosisfibrillin-1 mutations
Type
Brief Report
Information
Cardiology in the Young , Volume 22 , Issue 4 , August 2012 , pp. 466 - 468
Copyright
Copyright © Cambridge University Press 2012

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. De Paepe, A, Devereux, RB, Dietz, HC, Hennekam, RC, Pyeritz, RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62: 417–426.3.0.CO;2-R>CrossRefGoogle ScholarPubMed
2. Judge, DP, Dietz, HC. Marfan's syndrome. Lancet 2005; 366: 1965–1976.CrossRefGoogle ScholarPubMed
3. Ross, JL, Zeger, MP, Kushner, H, Zinn, AR, Roeltgen, DP. An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Dev Disabil Res Rev 2009; 15: 309–317.CrossRefGoogle ScholarPubMed
4. Lang, RM, Bierig, M, Devereux, RB, et al. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr 2005; 18: 1440–1463.CrossRefGoogle Scholar
5. Loeys, BL, Dietz, HC, Braverman, AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47: 476–485.CrossRefGoogle ScholarPubMed
6. De Backer, J, Loeys, B, Leroy, B, Coucke, P, Dietz, H, De Paepe, A. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. Clin Genet 2007; 72: 188–198.CrossRefGoogle ScholarPubMed
7. Kanemaru, K, Ohkawa, S, Kuboki, K, et al. The Marfan syndrome with an XYY chromosome pattern. Jpn J Med 1988; 27: 74–78.CrossRefGoogle ScholarPubMed
8. Chiyo, H, Matsui, I, Tano, T. A case of XYY with typical Marfan's syndrome (author's transl). Jinrui Idengaku Zasshi 1974; 19: 93–94.Google ScholarPubMed
9. Dignan, PS, Kreines, K, Soukup, S, Warkany, J. Arachnodactyly (Marfan's syndrome) with XYY karyotype. Am J Dis Child 1972; 124: 266–270.Google ScholarPubMed