Cat Eye Syndrome

Authors

  • Peter Timoney
  • Ross MacNicholas

Keywords:

Medicine

References

1 Spencer W. The uveal tract. Ophthalmic Pathology: An Atlas and Textbook 3rd edition. London: Saunders; 1985 p.1512.
2 Schachenmann G, Schmid W, Fraccaro M et al. Chromosomes in coloboma and anal atresia. (Letter) Lancet II 1965;290.
3 Gardner RJM, Sutherland GR. Chromosome Abnormalities and Genetic Counselling 2nd edition, London: Oxford University
Press, 1996, p.12.
4 Schinzel A, Schmid W, Fraccaro M et al. The “cat eye syn- drome”: dicentric small marker chromosome probably derived from a no.22(tetrasomy 22pter to q11) associated with a charac- teristic phenotype. Report of 11 patients and delineation of the clinical picture. Human Genetics 1981;57(2):148-158.
5 Frizzley JK, Stephan MJ, Lam AN, et al. Ring Duplication/Deletion Mosaicism: clinical, cytogenetic and molecular characterisation. J Med Genet 1999;36(3):237-241.
6 Cat Eye Syndrome. Available at: Cat eye syndrome: Online medelian inheritance in man (OMIM ref #115470), John Hopkins University http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id =115470 Accessed February 9, 2001.
7 Luleci G, Bagci G, Kivran M et al. A hereditary bisatellite- dicentric supernumery chromosome in a case of cat eye syn- drome. Hereditas 1989;11:7-10.
8 Riazi MA, Brinkman-Mills P, Nguyen T. et al. The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome. Genomics 2000;64(3):277- 285.
9 McTaggart KE, Budarf ML, Driscoll DA et al. Cat eye syn- drome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome break- points. Cytogenetics & Cell Genetics 1998;81(3-4):222-228.
10 Edelmann L, Pandita RK, Spiteri E et al. A common molecu- lar basis for rearrangement disorders on chromosome 22q11. Human Molecular Genetics 1999;8(7):1157-1167.
11 Lissauer T, Clayden G. Illustrated Textbook of Paediatrics. London: Mosby Publishing;1997, p.53.

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Published

2001-01-01

How to Cite

Timoney, P., & MacNicholas, R. (2001). Cat Eye Syndrome. Trinity Student Medical Journal , 2(1), Page 19–21. Retrieved from https://ojs.tchpc.tcd.ie/index.php/tsmj/article/view/1899

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