Emanuel Syndrome

  • Harold Chen
Living reference work entry


Emanuel syndrome (ES) is an unbalanced translocation syndrome that usually arises through a 3:1 meiosis I malsegregation during gametogenesis in a balanced translocation phenotypically normal carrier (Shaikh et al. 1999). ES is a rare inherited chromosomal abnormality syndrome with over 100 cases reported (Fraccaro et al. 1990; Zackai and Emanuel 1980; Lin et al. 1986; Choudhary et al. 2013).


Patent Ductus Arteriosus Biliary Atresia Club Foot Preimplantation Genetic Diagnosis Derivative Chromosome 
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  1. Carter, M. T., St Pierre, S. A., Zackai, E. H., et al. (2009). Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. American Journal of Medical Genetics A, 149A, 1712–1721.CrossRefGoogle Scholar
  2. Choudhary, M. G., Babji, P., Sharma, N., et al. (2013). Derivative 11;22 (Emanuel syndrome): A case report and a review. Case Reports in Pediatrics, 2013, 1–4.CrossRefGoogle Scholar
  3. Crolla, J. A., Youings, S. A., Ennis, S., et al. (2005). Supernumerary marker chromosomes in man: Parental origin, mosaicism and maternal age revisited. European Journal of Human Genetics, 13, 154–160.PubMedCrossRefGoogle Scholar
  4. Emanuel, B. S., Zackai, E. H., & Medne, L. (2015). Emanuel syndrome. GeneReviews. Available at Updated 5 Feb 2015.
  5. Fraccaro, M., Lindsten, J., Ford, C. E., et al. (1980). The 11q;22q translocation: A European collaborative analysis of 43 cases. Human Genetics, 56, 21–51.PubMedCrossRefGoogle Scholar
  6. Hou, J. W. (2013). Supernumerary chromosome marker der (22) t (11;22) resulting from a maternal balanced translocation. Chang Gung Medical Journal, 26, 48–52.Google Scholar
  7. Jobanputra, V., Chung, W. K., Hacker, A. M., et al. (2005). A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer. Prenatal Diagnosis, 25, 683–686.PubMedPubMedCentralCrossRefGoogle Scholar
  8. Kapoor, S. (2015). Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome. Journal of Pediatric Neuroscience, 10, 194–195.CrossRefGoogle Scholar
  9. Kurahashi, H., Shaikh, T. H., Zackai, E. H., et al. (2000). Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). American Journal of Human Genetics, 67, 763–768.PubMedPubMedCentralCrossRefGoogle Scholar
  10. Lin, A. E., Bernar, J., Chin, A. J., et al. (1986). Congenital heart disease in supernumerary der(22), t(11;22) syndrome. Clinical Genetics, 29, 269–275.PubMedCrossRefGoogle Scholar
  11. Lindblom, A., Sandelin, K., Iselius, L., et al. (1994). Predisposition for breast cancer in carriers of constitutional translocation 11q;22q. American Journal of Human Genetics, 54, 871–876.PubMedPubMedCentralGoogle Scholar
  12. Shaikh, T. H., Budarf, M. L., Celle, L., et al. (1999). Clustered 11q23 and 22q11 breakpoints and 3: 1 meiotic malsegregation in multiple unrelated t(11;22) families. American Journal of Human Genetics, 65, 1595–1607.PubMedPubMedCentralCrossRefGoogle Scholar
  13. Van Assche, E., Staessen, C., Vegetti, W., et al. (1999). Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22). Molecular Human Reproduction, 5, 682–690.PubMedCrossRefGoogle Scholar
  14. Wieland, I., Muschke, P., Volleth, M., et al. (2006). High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11). Genes, Chromosomes and Cancer, 45, 945–949.PubMedCrossRefGoogle Scholar
  15. 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.PubMedCrossRefGoogle Scholar
  16. Zaki, M. S., Mohamed, A. M., Kamel, A. K., et al. (2012). Emanuel syndrome due to unusual segregation of paternal origin. Genetic Counseling, 23, 319–328.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

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

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