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Case Reports in Obstetrics and Gynecology
Volume 2013 (2013), Article ID 248050, 5 pages
http://dx.doi.org/10.1155/2013/248050
Case Report

Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

1Department of Medical Biology, Faculty of Medicine, Harran University, 63100 Sanliurfa, Turkey
2Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, 21280 Diyarbakir, Turkey
3Department of Medical Genetics, Faculty of Medicine, Kocaeli University, 41000 Kocaeli, Turkey
4Department of Gynecology and Obstetrics, Faculty of Medicine, Dicle University, 21280 Diyarbakir, Turkey
5Department of Internal Medicine, Bagcılar Education and Research Hospital, 34200 Istanbul, Turkey

Received 28 September 2013; Accepted 29 October 2013

Academic Editors: S. Z. A. Badawy and M. A. Osmanagaoglu

Copyright © 2013 Halit Akbas 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. H. E. Wyandt, “Ring autosomes: identification, familial transmission, causes of phenotypic effects and in vitro mosaicism,” in The Cytogenetics of Mammalian Autosomal Rearrangements, A. Daniel, Ed., pp. 667–696, Alan R. Liss, New York, NY, USA, 1988. View at Google Scholar
  2. G. Kosztolányi, “Ring chromosome 4: wolf syndrome and unspecified developmental anomalies,” Acta Paediatrica Hungarica, vol. 26, pp. 157–165, 1985. View at Google Scholar
  3. J. R. Sawyer, J. L. Lukacs, S. J. Hassed, G. L. Arnold, H. F. Mitchell, and M. Muenke, “Subband deletion of 7q36. 3 in a patient with ring chromosome 7: association with holoprosencephaly,” American Journal of Medical Genetics, vol. 65, pp. 113–116, 1996. View at Google Scholar
  4. L. Rodriguez, A. Sanchis, A. Villa et al., “Ring chromosome 7 and sacral agenesis,” American Journal of Medical Genetics, vol. 94, pp. 52–58, 2000. View at Google Scholar
  5. S. Balci, Ö. Engiz, D. Aktaş et al., “Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies,” American Journal of Medical Genetics, vol. 140, no. 6, pp. 628–632, 2006. View at Publisher · View at Google Scholar · View at Scopus
  6. S. Cleveland William, “Robust locally weighted regression and smoothing scatterplots,” Journal of the American Statistical Association, vol. 74, pp. 829–836, 1979. View at Publisher · View at Google Scholar
  7. D. M. Sherer, Y. G. Shah, N. Wang, L. A. Metlay, and J. R. Woods Jr., “Prenatal diagnosis and subsequent management of a fetus with a 46XY r(4)(p15–q35) karyotype,” American Journal of Perinatology, vol. 8, no. 1, pp. 53–55, 1991. View at Google Scholar · View at Scopus
  8. C. P. Chen, C. Y. Hsu, C. Y. Tzen et al., “Prenatal diagnosis of mosaic ring chromosome 4,” Prenatal Diagnosis, vol. 27, no. 5, pp. 485–487, 2007. View at Publisher · View at Google Scholar · View at Scopus
  9. A. Kocks, S. Endele, R. Heller et al., “Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints,” Journal of Medical Genetics, vol. 39, no. 5, article e23, 2002. View at Publisher · View at Google Scholar · View at Scopus
  10. S. T. South, S. B. Bleyl, and J. C. Carey, “Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation,” American Journal of Medical Genetics A, vol. 143, no. 18, pp. 2137–2142, 2007. View at Google Scholar · View at Scopus
  11. R. H. Khonsari, K. M. Blechman, J. Michaels et al., “Vascular malformations and upper extremity anomalies associated with a subtelomeric microdeletion of chromosome 4p,” Clinical Dysmorphology, vol. 17, no. 3, pp. 193–194, 2008. View at Publisher · View at Google Scholar · View at Scopus
  12. P. R. Blackett, S. Li, and J. J. Mulvihill, “Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay,” American Journal of Medical Genetics, vol. 137, no. 2, pp. 213–216, 2005. View at Publisher · View at Google Scholar · View at Scopus
  13. G. Van Buggenhout, C. Melotte, B. Dutta et al., “Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map,” Journal of Medical Genetics, vol. 41, no. 9, pp. 691–698, 2004. View at Publisher · View at Google Scholar · View at Scopus
  14. B. S. Pickard, E. J. Hollox, M. P. Malloy et al., “A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation,” BMC Medical Genetics, vol. 5, article 21, 2004. View at Publisher · View at Google Scholar · View at Scopus
  15. M. L. Hanel, R. D. Wuebbles, and P. L. Jones, “Muscular dystrophy candidate gene FRG1 is critical for muscle development,” Developmental Dynamics, vol. 238, no. 6, pp. 1502–1512, 2009. View at Publisher · View at Google Scholar · View at Scopus