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Emanuel Syndrome (Es): New Case-Report and Review of the Literature/ Емануел Синдром (Es): Презентација На Нов Случај И Преглед На Литературата

PRILOZI
Volume 36 (2015): Issue 1 (May 2015)
By:
Open Access
|Jun 2015

References

  1. 1. Carter M. T, St Pierre S. A, Zackai E. H, Emanuel B. S, Boycott K. M. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Am J Med Genet A. 2009; 149A(8): 1712-1721.10.1002/ajmg.a.32957273333419606488
    Search in Google Scholar
  2. 2. Liehr T, Cirkovic S, Lalic T, Guc-Scekic M, de Almeida C, Weimer J, Iourov I, Melaragno MI, Guilherme RS, Stefanou EG, Aktas D, Kreskowski K, Klein E, Ziegler M, Kosyakova N, Volleth M, Hamid AB. Complex small supernumerary marker chromosomes - an update. Mol Cytogenet. 2013; 6(1): 46-51.10.1186/1755-8166-6-46412918024171835
    Search in Google Scholar
  3. 3. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res. 2004; 107: 55-67.10.1159/00007957215305057
    Search in Google Scholar
  4. 4. Fraccaro M, Lindsten J, Ford C. E, Iselius L. The 11q;22q translocation: a European collaborative analysis of 43 cases. Human Genetics.1980; 56(1): 21-51.10.1007/BF002815677203479
    Search in Google Scholar
  5. 5. Zackai E. H, Emanuel B. S. Site-specific reciprocal translocation, t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet. 1980; 7: 507-21.10.1002/ajmg.13200704127211960
    Search in Google Scholar
  6. 6. Medne L, Zackai E. H, Emanuel B. S. Emanuel Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. 2007 Apr 20 [updated 2010 May 11].
    Search in Google Scholar
  7. 7. Choudhary MG, Babaji P, Sharma N, Dhamankar D, Naregal G, Reddy VS. Derivative 11;22 (Emanuel) syndrome: a case report and a review.Case Rep Pediatr. 2013; 2013: 237935.10.1155/2013/237935365204423691404
    Search in Google Scholar
  8. 8. Shaikh T. H, Budarf M. L, Celle L, Zackai E. H, Emanuel B. S. Clustered 11q23 and 22q11 breakpoints and 3 : 1 meiotic malsegregation in multiple unrelated t(11;22) families. American Journal of Human Genetics. 1999; 65(6): 1595-1607.10.1086/302666128837010577913
    Search in Google Scholar
  9. 9. Hou J. W. Supernumerary chromosome marker der (22) t (11;22) resulting from a maternal balanced translocation. Chang Gung Medical Journal. 2003; 26(1): 48-52.
    Search in Google Scholar
  10. 10. Garcia-Vielma C, de la Rosa-Alvarado RM, Nieto- Martinez K, Cortes-Gutierrez EI, de la Fuente-Cortez B. Emanuel syndrome (supernumerary derivative 22), the result of a maternal translocation. A case report. J Assoc Genet Technol. 2010; 36(4): 189-193.
    Search in Google Scholar
  11. 11. Kim HJ, Kim YM, Lee HB, Kim JH, Seo EJ, Yoo HW. A case with Emanual syndrome resulting from a maternal translocation. Journal of Medical Genetics. 2012; 9(1): 35-37.
    Search in Google Scholar
  12. 12. Dawson A. J, Mears A. J, Chudley A. E, Bech- Hansen T, McDermid H. Der(22)t(11,22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. Journal of Medical Genetics1. 996; 33(11): 952-956.10.1136/jmg.33.11.95210507918950677
    Search in Google Scholar
  13. 13. Zaki MS, Mohamed AM, Kamel AK, El-Gerzawy AM, El-Ruby MO. Emanuel syndrome due to unusual segregation of paternal origin. Genetic Counseling2012;23(2):319-328.
    Search in Google Scholar
  14. 14. Liehr T. Small Supernumerary Marker Chromosomes (sSMC) A Guide for Human Geneticists and Clinicians; With contributions by UNIQUE (The Rare Chromosome Disorder Support Group). Springer, 2012.10.1007/978-3-642-20766-2
    Search in Google Scholar
  15. 15. Estop AM, Cieply KM, Munne S, Feingold E. Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11) Human Genetics. 1999; 104(5): 412-417.
    Search in Google Scholar
  16. 16. Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev. 2008; 14(1): 11-18.
    Search in Google Scholar
  17. 17. Kurahashi, H, Shaikh, T. H, Hu, P, Roe, B. A, Emanuel, B. S, Budarf, M. L. Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum. Molec. Genet. 2000; 9: 1665-1670.
    Search in Google Scholar
  18. 18. Vorstman J. A. S, Jalali G. R, Rappaport E. F, Hacker A. M, Scott C, Emanuel B. S. MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Human Mutation. 2006; 27(8): 814-821.10.1002/humu.20330281441416791841
    Search in Google Scholar
DOI: https://doi.org/10.1515/prilozi-2015-0046 | Journal eISSN: 1857-8985 | Journal ISSN: 1857-9345
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Language: English
Page range: 205 - 208
Published on: Jun 16, 2015
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Emanuel syndrome,
congenital anomalies,
derivative chromosome 22 {der(22)t(11;22)}.
Related subjects:
Medicine,
Basic medical science,
History and ethics of medicine,
Clinical medicine,
Clinical medicine, other,
Social sciences,
Education,
Education, other

© 2015 Snezana Jancevska, Mile Kitanovski, Nevenka Laban, Dragan Danilovski, Velibor Tasic, Zoran S. Gucev, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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