Tetrasomy 9p syndrome, a clinically diagnosable condition, is a rare cytogenetic disorder characterized by tetrasomy 9p associated with a distinctive patterns of multiple congenital anomalies. In 1973, Ghymers et al. first described the syndrome.


Patent Ductus Arteriosus Club Foot Anterior Fontanel Single Umbilical Artery Palmar Crease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Abe T, Morita M, Kawai K, et al.: Partial tetrasomy 9 (9qter 9q2101) due to extra iso-dicentric chromosome. Ann Genet 20:111–114, 1977.PubMedGoogle Scholar
  2. 2.
    Cuoco C, Gimelli G, Pasquali F, et al.: Duplication of the short arm of chromosome 9. Analysis of five cases. Hum Genet 61:3–7, 1982.CrossRefPubMedGoogle Scholar
  3. 3.
    de Azevedo Moreira LM, Freitas LM, Gusmao FA, et al.: New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl. Birth Defects Res Part A Clin Mol Teratol 67:985–988, 2003.CrossRefPubMedGoogle Scholar
  4. 4.
    Dhandha S, Hogge WA, Surti U, et al.: Three cases of tetrasomy 9p. Am J Med Genet 113:375–380, 2002.CrossRefPubMedGoogle Scholar
  5. 5.
    Dutly F, Balmer D, Baumer A, et al.: Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation. Eur J Hum Genet 6:140–144, 1998.CrossRefPubMedGoogle Scholar
  6. 6.
    Eggermann T, Rossier E, Theurer-Mainka U, et al.: New case of mosaic tetrasomy 9p with additional neurometabolic findings. Am J Med Genet 75:530–533, 1998.CrossRefPubMedGoogle Scholar
  7. 7.
    Fryns JP: Trisomy 9p and tetrasomy 9p: a unique, clinically recognisable syndrome. Genet Couns 9:229–230, 1998.PubMedGoogle Scholar
  8. 8.
    Grass Fertil Steril, Parke JC, Kirkman HN, et al.: Tetrasomy 9p: Tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review. Am J Med Genet 47:812–816, 1993.CrossRefPubMedGoogle Scholar
  9. 9.
    Jalad SM, Kukolich MK, Garcia M, et al.: Tetrasomy 9p: an emerging syndrome. Clin Genet 39:60–64, 1991.Google Scholar
  10. 10.
    Kukolich M, Jalal S, Garcia M, et al.: Occurrence of 9p tetrasomy. Am J Hum Genet Suppl 47:360, 1990.Google Scholar
  11. 11.
    Lloveras E, Perez C, Sole F, et al.: Two cases of tetrasomy 9p syndrome with tissue limited mosaicism. Am J Med Genet 124A:402–406, 2004.CrossRefPubMedGoogle Scholar
  12. 12.
    McDowall AA, Blunt S, Berry AC, et al.: Prenatal diagnosis of a case of tetrasomy 9p. Prenat Diagn 9:809–811, 1989.CrossRefPubMedGoogle Scholar
  13. 13.
    Melaragno MI, Brunoni D, da Silva Patricio FR, et al.: A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. Ann Genet 35:79–84, 1992.PubMedGoogle Scholar
  14. 14.
    Orye E, Verhaaren H, Van Egmond E, et al.: A new case of trisomy 9p syndrome. Clin Genet 7:134–143, 1975.PubMedCrossRefGoogle Scholar
  15. 15.
    Park J Pediatr, Rawnsley BE, Marin-Padilla M: Tetrasomy 9p syndrome. Ann Genet 38:54–56, 1995.PubMedGoogle Scholar
  16. 16.
    Penhausen P, Riscile G, Miller K, et al.: Tissue limited mosaicism in a patient with tetrasomy 9p. Am J Med Genet 37:388–391, 1990.CrossRefGoogle Scholar
  17. 17.
    Peters J, Pehl C, Miller K, et al.: Case report of mosaic partial tetrasomy 9p mimicking Klinefelter syndrome Birth Defects 18:287–293, 1982.PubMedGoogle Scholar
  18. 18.
    Petit P, Devriendt K, Vermeesch JR, et al.: Localization by FISH of centric fission breakpoints in de novo trisomy 9p patient with i(9p) and t(9p;11p). Genet Couns 9:215–221, 1998.PubMedGoogle Scholar
  19. 19.
    Rutten FJ, Scheres JMC, Hustinx TWJ, et al.: A presumptive tetrasomy of the short arm of chromosome 9. Humangenetik 25:163–170, 1974.CrossRefPubMedGoogle Scholar
  20. 20.
    Schaefer GB, Domek DB, Morgan MA, et al.: Tetrasomy of the short arm of chromosome 9: Prenatal diagnosis and further delineation of the phenotype. Am J Med Genet 38:612–615, 1991.CrossRefPubMedGoogle Scholar
  21. 21.
    Shapiro S, Hansen K, Littlefield C: Non-mosaic partial tetrasomy and partial trisomy 9. Am J Med Genet 20:271–276, 1985.CrossRefPubMedGoogle Scholar
  22. 22.
    Tonk VS: Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival. Clin Genet 52:23–29, 1997.PubMedCrossRefGoogle Scholar
  23. 23.
    Wilson GN, Faj A, Baker D: The phenotypic and cytogenetic spectrum of partial trisomy 9. Am J Med Genet 20:277–282, 1985.CrossRefPubMedGoogle Scholar
  24. 24.
    Wisniewski L, Politis G, Higgins J: Partial tetrasomy 9 in a liveborn infant. Clin Genet 14:14153, 1978.Google Scholar

Copyright information

© Humana Press Inc. 2006

Personalised recommendations