Cat Eye Syndrome

Living reference work entry


Cat eye syndrome is a clinically recognizable congenital malformation syndrome consisting primarily of colobomas, anal anomalies, preauricular anomalies, cardiac and renal defects, and mild to moderate mental retardation. The name “cat eye” was introduced because of iris colobomas resembling the pupils of the cat.


Biliary Atresia Congenital Heart Defect Choledochal Cyst Hypoplastic Left Heart Syndrome Imperforate Anus 
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.


  1. Beeser, S. L., Donnenfeld, A. E., Miller, R. C., et al. (1994). Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization. Prenatal Diagnosis, 14, 1029–1034.CrossRefGoogle Scholar
  2. Ben-Shachar, S., Ou, Z., Shaw, C. A., et al. (2008). 22q11.2 distal deletion: A recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. American Journal of Human Genetics, 82, 214–221.PubMedCentralCrossRefPubMedGoogle Scholar
  3. Berends, M. J., Tan-Sindhunata, G., Leegte, B., et al. (2001). Phenotypic variability of cat-eye syndrome. Genetic Counseling, 12, 23–34.PubMedGoogle Scholar
  4. Bofinger, M. K., & Soukup, S. W. (1977). Cat eye syndrome. Partial trisomy 22 due to translocation in the mother. American Journal of Diseases of Children, 131, 893–897.CrossRefPubMedGoogle Scholar
  5. Chen, C.-P., Ko, T.-M., Su, J.-W., et al. (2013). Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome. Gene, 527, 384–388.CrossRefPubMedGoogle Scholar
  6. Córdova-Fletes, D., M. G., Domínguez, A., Vázquez-Cárdenas, A., et al. (2012). A de novo sSMC(22) characterized by high-resolution arrays in a girl with cat-eye syndrome without coloboma. Molecular Syndromology, 3, 131–135.PubMedCentralPubMedGoogle Scholar
  7. Courtens, W., Schramme, I., & Laridon, A. (2008). Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? Report of two families. American Journal of Medical Genetics Part A, 146, 758–763.CrossRefGoogle Scholar
  8. Crolla, J. A., Howard, P., Mitchell, C., et al. (1997). A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker (22) chromosomes. American Journal of Medical Genetics, 72, 440–447.CrossRefPubMedGoogle Scholar
  9. Devavaram, P., Seefelder, C., & Lillehei, C. W. (2001). Anaesthetic management of cat eye syndrome. Paediatric Anaesthesia, 11, 746–748.CrossRefPubMedGoogle Scholar
  10. Ensenauer, R. E., Adeyinka, A., Flynn, H. C., et al. (2003). Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. American Journal of Human Genetics, 73, 1027–1040.PubMedCentralCrossRefPubMedGoogle Scholar
  11. Feenstra, I., Koolen, D. A., van der Pas, J., et al. (2006). Cryptic duplication of the distal segment of 22q due to a translocation (21;22): Three case reports and a review of the literature. European Journal of Medical Genetics, 49, 384–395.CrossRefPubMedGoogle Scholar
  12. Footz, T. K., Brinkman-Mills, P., Banting, G. S., et al. (2001). Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: A search for candidate genes at or near the human chromosome 22 pericentromere. Genome Research, 11, 1053–1070.PubMedCentralCrossRefPubMedGoogle Scholar
  13. Freedom, R. M., & Gerald, P. S. (1973). Congenital cardiac disease and the “cat eye” syndrome. American Journal of Diseases of Children, 126, 16–18.PubMedGoogle Scholar
  14. Guanti, G. (1981). The aetiology of the cat eye syndrome reconsidered. Journal of Medical Genetics, 18, 108–118.PubMedCentralCrossRefPubMedGoogle Scholar
  15. Haltlrich, I., Pikó, H., Kiss, E., et al. (2014). A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome. Molecular Cytogenetics, 7, 37–44.CrossRefGoogle Scholar
  16. Jedraszak, G., Receveur, A., Andieux, J., et al. (2013). A severe prenatal presentation of cat eye syndrome. Clinical Dysmorphology, 22, 175–177.CrossRefPubMedGoogle Scholar
  17. Jezela-Stanek, A., Dobrzan Ska, A., Maksym-Gąsiorek, D., et al. (2009). Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome. Clinical Dysmorphology, 18, 13–17.CrossRefPubMedGoogle Scholar
  18. Kriek, M., Szuhai, K., Kant, S. G., et al. (2006). A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the cat eye syndrome region may have no clinical relevance. Human Genetics, 120, 77–84.CrossRefPubMedGoogle Scholar
  19. Kvarnung, M., Lindstrand, A., Malmgren, H., et al. (2012). Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype. American Journal of Medical Genetics Part A, 158A, 1111–1117.CrossRefPubMedGoogle Scholar
  20. Liehr, T., Pfeiffer, R. A., & Trautmann, U. (1992). Typical and partial cat eye syndrome: Identification of the marker chromosome by FISH. Clinical Genetics, 42, 91–96.CrossRefPubMedGoogle Scholar
  21. Lindsay, E. A., Shaffer, L. G., Carrozzo, R., et al. (1995). De novo tandem duplication of chromosome segment 22q11-q12: Clinical, cytogenetic, and molecular characterization. American Journal of Medical Genetics, 56, 296–299.CrossRefPubMedGoogle Scholar
  22. Magenis, R. E., Sheehy, R. R., Brown, M. G., et al. (1988). Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis. American Journal of Medical Genetics, 29, 9–19.CrossRefPubMedGoogle Scholar
  23. McDermid, H. E., & Morrow, B. E. (2002). Genomic disorders on 22q11. American Journal of Human Genetics, 70, 1077–1088.PubMedCentralCrossRefPubMedGoogle Scholar
  24. McDermid, H. E., Duncan, A. M., Brasch, K. R., et al. (1986). Characterization of the supernumerary chromosome in cat eye syndrome. Science, 232, 646–648.CrossRefPubMedGoogle Scholar
  25. McTaggart, K. E., Budarf, M. L., Driscoll, D. A., et al. (1998). Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenetics and Cell Genetics, 81, 222–228.CrossRefPubMedGoogle Scholar
  26. Mears, A. J., El-Shanti, H., Murray, J. C., et al. (1995). Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region. American Journal of Human Genetics, 57, 667–673.PubMedCentralPubMedGoogle Scholar
  27. Reeser, S. L., Donnenfeld, A. E., Miller, R. C., et al. (1994). Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization. Prenatal Diagnosis, 14, 1029–1034.CrossRefPubMedGoogle Scholar
  28. Riazi, M. A., Brinkman-Mills, P., Nguyen, T., et al. (2000). The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome. Genomics, 64, 277–285.CrossRefPubMedGoogle Scholar
  29. Rosias, P. R., Sijstermans, J. M., Theunissen, P. M., et al. (2001). Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genetic Counseling, 12, 273–282.PubMedGoogle Scholar
  30. Schachenmann, G., Schmid, W., Fraccaro, M., et al. (1965). Chromosomes in coloboma and anal atresia. Lancet, 2(7406), 290.CrossRefPubMedGoogle Scholar
  31. Schinzel, A., Schmid, W., Fraccaro, M., et al. (1981). The ≪cat eye syndrome≫: Dicentric small marker chromosome probably derived from a No 22 (tetrasomy 22pter – > q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Human Genetics, 57, 148–158.CrossRefPubMedGoogle Scholar
  32. Stankiewicz, P., & Leepski, J. R. (2002). Molecular-evolutionary mechanism for genomic disorders. Current Opinion in Genetics and Development, 12, 312–319.CrossRefPubMedGoogle Scholar
  33. Wilson, G. N., Baker, D. L., Schau, J., et al. (1984). Cat eye syndrome owing to tetrasomy 22pter → q11. Journal of Medical Genetics, 21, 60–63.PubMedCentralCrossRefPubMedGoogle Scholar
  34. Yobb, T. M., Somerville, M. J., Willatt, L., et al. (2005). Microduplication and triplication of 22q11.2: A highly variable syndrome. American Journal of Human Genetics, 76, 865–876.PubMedCentralCrossRefPubMedGoogle Scholar
  35. Zackai, E. H., & Emanuel, B. S. (1980). Site-specific reciprocal translocation, t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction. American Journal of Medical Genetics, 7, 507–521.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

Personalised recommendations