Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Genetics
Volume 2013, Article ID 785830, 4 pages
http://dx.doi.org/10.1155/2013/785830
Case Report

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

1Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 08, 00800, Sri Lanka
2Asiri Center for Genomic and Regenerative Medicine, Asiri Surgical Hospital, Colombo 05, 00500, Sri Lanka
3Lady Ridgeway Children’s Hospital, Colombo 08, 00800, Sri Lanka

Received 21 June 2013; Accepted 9 July 2013

Academic Editors: D. J. Bunyan, D. M. Iovannisci, A. Sazci, and G. Vogt

Copyright © 2013 Nirmala D. Sirisena 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. J. Boby, S. C. Karande, K. R. Lahiri, M. K. Jain, and S. Kanade, “9p-syndrome,” Journal of Postgraduate Medicine, vol. 40, no. 1, pp. 40–41, 1994. View at Google Scholar · View at Scopus
  2. M. E. M. Swinkels, A. Simons, D. F. Smeets et al., “Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: delineation of the critical region for a consensus phenotype,” American Journal of Medical Genetics A, vol. 146, no. 11, pp. 1430–1438, 2008. View at Publisher · View at Google Scholar · View at Scopus
  3. X. Hauge, G. Raca, S. Cooper et al., “Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p,” Genetics in Medicine, vol. 10, no. 8, pp. 599–611, 2008. View at Publisher · View at Google Scholar · View at Scopus
  4. D. S. Murthy, S. K. Murthy, G. J. Banker, and A. J. Patel, “De novo deletion of chromosome 9 (9p-) in a child with multiple congenital anomalies and psychomotor retardation,” Indian Pediatrics, vol. 28, no. 5, pp. 546–549, 1991. View at Google Scholar · View at Scopus
  5. Y. Kuroki, S. Yokota, and H. Nakai, “A case of 9p- syndrome,” Human Genetics, vol. 38, no. 1, pp. 107–111, 1977. View at Google Scholar · View at Scopus
  6. J. Nielsen, A. Homma, and F. Christiansen, “The deletion 9p syndrome. A 61 year old man with deletion of short arm 9,” Clinical Genetics, vol. 12, no. 2, pp. 80–84, 1977. View at Google Scholar · View at Scopus
  7. J. L. Huret, C. Leonard, B. Forestier, M. O. Rethore, and J. Lejeune, “Eleven new cases of del(9p) and features from 80 cases,” Journal of Medical Genetics, vol. 25, no. 11, pp. 741–749, 1988. View at Google Scholar · View at Scopus
  8. L. A. Christ, C. A. Crowe, M. A. Micale, J. M. Conroy, and S. Schwartz, “Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome,” American Journal of Human Genetics, vol. 65, no. 5, pp. 1387–1395, 1999. View at Publisher · View at Google Scholar · View at Scopus
  9. B. H. W. Faas, N. De Leeuw, H. Mieloo, J. Bruinenberg, and B. B. A. De Vries, “Further refinement of the candidate region for monosomy 9p syndrome,” American Journal of Medical Genetics A, vol. 143, no. 19, pp. 2353–2356, 2007. View at Publisher · View at Google Scholar · View at Scopus
  10. H. Kawara, T. Yamamoto, N. Harada et al., “Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2–p23,” American Journal of Medical Genetics, vol. 140, no. 4, pp. 373–377, 2006. View at Publisher · View at Google Scholar · View at Scopus
  11. M. Barbaro, A. Balsamo, B. M. Anderlid et al., “Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA Sweden,” European Journal of Human Genetics, vol. 17, no. 11, pp. 1439–1447, 2009. View at Publisher · View at Google Scholar · View at Scopus