Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Dentistry
Volume 2014, Article ID 730375, 4 pages
http://dx.doi.org/10.1155/2014/730375
Case Report

A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

1Pontifical Catholic University of Minas Gerais (PUC Minas), 30535-901 Belo Horizonte, MG, Brazil
2Catholic University of Brasília (UCB), 70790-160 Brasília, DF, Brazil
3Genetic Technology Laboratory, BIOCOD, 30140-070 Belo Horizonte, MG, Brazil
4Institute of Biological Science, Department of Basic Sciences, Genetics, Federal University of Juiz de Fora (UFJF), Campus Universitário, Rua José Lourenço Kelmer, s/n, Bairro São Pedro, 36036-900 Juiz de Fora, MG, Brazil

Received 21 September 2014; Accepted 4 November 2014; Published 25 November 2014

Academic Editor: Wasiu L. Adeyemo

Copyright © 2014 Regina Ferreira Rezek et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. F. Rahimov, A. Jugessur, and J. C. Murray, “Genetics of nonsyndromic orofacial clefts,” The Cleft Palate-Craniofacial Journal, vol. 49, no. 1, pp. 73–91, 2012. View at Publisher · View at Google Scholar · View at Scopus
  2. A. P. Vanderas, “Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review,” Cleft Palate Journal, vol. 24, no. 3, pp. 216–225, 1987. View at Google Scholar · View at Scopus
  3. J. C. Murray, S. Daack-Hirsch, K. H. Buetow et al., “Clinical and epidemiologic studies of cleft lip and palate in the Philippines,” The Cleft Palate-Craniofacial Journal, vol. 34, no. 1, pp. 7–10, 1997. View at Google Scholar
  4. K. Rodrigues, M. F. de Sena, Â. G. Roncalli, and M. Â. F. Ferreira, “Prevalence of orofacial clefts and social factors in Brazil,” Brazilian Oral Research, vol. 23, no. 1, pp. 38–42, 2009. View at Publisher · View at Google Scholar · View at Scopus
  5. S. Beriaghi, S. Myers, S. Jensen, S. Kaimal, C. Chan, and G. B. Schaefer, “Cleft lip and palate: association with other congenital malformations,” Journal of Clinical Pediatric Dentistry, vol. 33, no. 3, pp. 207–210, 2009. View at Google Scholar · View at Scopus
  6. IPDTOC Working Group, “Prevalence at birth of cleft lip with or without cleft palate: data from the International Perinatal Database of Typical Oral Clefts (IPDTOC),” The Cleft Palate-Craniofacial Journal, vol. 48, no. 1, pp. 66–81, 2011. View at Publisher · View at Google Scholar · View at Scopus
  7. A. J. M. Luijsterburg and C. Vermeij-Keers, “Ten years recording common oral clefts with a new descriptive system,” The Cleft Palate-Craniofacial Journal, vol. 48, no. 2, pp. 173–182, 2011. View at Publisher · View at Google Scholar · View at Scopus
  8. F. Perrotin, L. M. de Poncheville, H. Marret, C. Paillet, J. Lansac, and G. Body, “Chromosomal defects and associated malformations in fetal cleft lip with or without cleft palate,” European Journal of Obstetrics & Gynecology and Reproductive Biology, vol. 99, no. 1, pp. 19–24, 2001. View at Publisher · View at Google Scholar · View at Scopus
  9. M. Rittler, V. Cosentino, J. S. López-Camelo, J. C. Murray, G. Wehby, and E. E. Castilla, “Associated anomalies among infants with oral clefts at birth and during a 1-year follow-up,” American Journal of Medical Genetics Part A, vol. 155, no. 7, pp. 1588–1596, 2011. View at Publisher · View at Google Scholar · View at Scopus
  10. N. Setó-Salvia and P. Stanier, “Genetics of cleft lip and/or cleft palate: association with other common anomalies,” European Journal of Medical Genetics, vol. 57, no. 8, pp. 381–393, 2014. View at Publisher · View at Google Scholar · View at Scopus
  11. A. Schinzel, Catalogue of Unbalanced Chromosome Aberrations in Man, Walter de Gruyter, New York, NY, USA, 2nd edition, 2001.
  12. S. Stengel-Rutkowski, K. Lohse, C. Herzog et al., “Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk,” Clinical Genetics, vol. 42, no. 4, pp. 178–185, 1992. View at Google Scholar · View at Scopus
  13. B. D. Gelb, J. A. Towbin, E. R. B. McCabe, and E. Sujansky, “San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease,” American Journal of Medical Genetics, vol. 40, no. 4, pp. 471–476, 1991. View at Publisher · View at Google Scholar · View at Scopus
  14. S. Birnbaum, K. U. Ludwig, H. Reutter et al., “Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24,” Nature Genetics, vol. 41, no. 4, pp. 473–477, 2009. View at Publisher · View at Google Scholar · View at Scopus
  15. S. F. A. Grant, K. Wang, H. Zhang et al., “A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24,” The Journal of Pediatrics, vol. 155, no. 6, pp. 909–913, 2009. View at Publisher · View at Google Scholar · View at Scopus
  16. A. Rojas-Martinez, H. Reutter, O. Chacon-Camacho et al., “Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population: evidence for IRF6 and variants at 8q24 and 10q25,” Birth Defects Research Part A—Clinical and Molecular Teratology, vol. 88, no. 7, pp. 535–537, 2010. View at Publisher · View at Google Scholar · View at Scopus
  17. L. A. Brito, L. M. R. Paranaiba, C. F. S. Bassi et al., “Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil,” Birth Defects Research Part A—Clinical and Molecular Teratology, vol. 94, no. 6, pp. 464–468, 2012. View at Publisher · View at Google Scholar · View at Scopus
  18. M. Hikida, M. Tsuda, A. Watanabe et al., “No evidence of association between 8q24 and susceptibility to nonsyndromic cleft lip with or without palate in Japanese population,” The Cleft Palate-Craniofacial Journal, vol. 49, no. 6, pp. 714–717, 2012. View at Publisher · View at Google Scholar · View at Scopus
  19. M. Y. Xu, X. L. Deng, L. J. Tata et al., “Case-control and family-based association studies of novel susceptibility locus 8q24 in nonsyndromic cleft lip with or without cleft palate in a Southern Han Chinese population located in Guangdong Province,” DNA and Cell Biology, vol. 31, no. 5, pp. 700–705, 2012. View at Publisher · View at Google Scholar · View at Scopus
  20. K. U. Ludwig, E. Mangold, S. Herms et al., “Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci,” Nature Genetics, vol. 44, no. 9, pp. 968–971, 2012. View at Publisher · View at Google Scholar · View at Scopus
  21. D. Concolino, M. A. Iembo, M. T. Moricca et al., “A de novo 8q22.2-24.3 duplication in a patient with mild phenotype,” European Journal of Medical Genetics, vol. 55, no. 1, pp. 67–70, 2012. View at Publisher · View at Google Scholar · View at Scopus
  22. P. G. Wheeler, “8q23-q24 duplication—further delineation of a rare chromosomal abnormality,” American Journal of Medical Genetics Part A, vol. 152, no. 2, pp. 459–463, 2010. View at Publisher · View at Google Scholar · View at Scopus