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A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother Cover

A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

Open Access
|Jul 2016

References

  1. Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Am J Med Genet Part A. 2009; 149A(8): 1712-1721.
  2. Choudhary MG, Babaji P, Sharma N, Dhamankar D, Naregal G, Reddy VS. Derivative 11;22 (emanuel) syndrome:A case reportand a review. Case Reports Pediatr. 2013; 2013: 237935. 10.1155/2013/237935.
  3. Kadir RA, Hastings R, Economides DL. Prenatal diagnosis of supernumerary chromosome derivative (22) due to maternal balanced translocation in association with diaphragmatic hernia: Acase report. Prenat Diagn. 1997; 17(8): 761-764.
  4. Ohye T, Inagaki H, Kato T, Tsutsumi M, Kurahashi H. Prevalence of Emanuel syndrome: Theoretical frequency and surveillance result. Pediatr Int. 2014; 56(4): 462-466.
  5. OMIM 609029, Emanuel syndrome (http://www. omim.org/entry/609029).
Language: English
Page range: 77 - 82
Published on: Jul 9, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2016 E İkbal Atli, H Gürkan, Ü Vatansever, S Ulusal, H Tozkir, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.