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Case Reports in Genetics
Volume 2014, Article ID 470830, 5 pages
http://dx.doi.org/10.1155/2014/470830
Case Report

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

1Medical Genetics Unit, “San Luigi Gonzaga” University Hospital, University of Torino, Regione Gonzole 10, 10143 Orbassano, Italy
2Department of Clinical & Biological Sciences, University of Torino, 10143 Orbassano, Italy
3Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy
4Medical Genetics, “Città della Salute e della Scienza” University Hospital, 10126 Torino, Italy

Received 4 August 2014; Accepted 2 November 2014; Published 23 November 2014

Academic Editor: Evica Rajcan-Separovic

Copyright © 2014 Giorgia Mandrile 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. D. T. Miller, M. P. Adam, S. Aradhya et al., “Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies,” The American Journal of Human Genetics, vol. 86, no. 5, pp. 749–764, 2010. View at Publisher · View at Google Scholar · View at Scopus
  2. L. E. L. M. Vissers, B. B. A. de Vries, and J. A. Veltman, “Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis,” Journal of Medical Genetics, vol. 47, no. 5, pp. 289–297, 2010. View at Publisher · View at Google Scholar · View at Scopus
  3. D. Bartholdi, A. Stray-Pedersen, S. Azzarello-Burri et al., “A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes,” American Journal of Medical Genetics Part A, vol. 164, no. 5, pp. 1277–1283, 2014. View at Publisher · View at Google Scholar · View at Scopus
  4. M. Maroso, S. Balosso, T. Ravizza et al., “Toll-like receptor 4 and high-mobility group box-1 are involved in ictogenesis and can be targeted to reduce seizures,” Nature Medicine, vol. 16, no. 4, pp. 413–419, 2010. View at Publisher · View at Google Scholar · View at Scopus
  5. L. Apetoh, F. Ghiringhelli, A. Tesniere et al., “Toll-like receptor 4-dependent contribution of the immune system to anticancer chemotherapy and radiotherapy,” Nature Medicine, vol. 13, no. 9, pp. 1050–1059, 2007. View at Publisher · View at Google Scholar · View at Scopus
  6. S. A. J. L. Oberstein, M. Kriek, S. J. White et al., “Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase,” The American Journal of Human Genetics, vol. 79, no. 3, pp. 562–566, 2006. View at Publisher · View at Google Scholar · View at Scopus
  7. R. Ji, J. Jia, X. Ma, J. Wu, Y. Zhang, and L. Xu, “Genetic variants in the promoter region of the ALOx5AP gene and susceptibility of ischemic stroke,” Cerebrovascular Diseases, vol. 32, no. 3, pp. 261–268, 2011. View at Publisher · View at Google Scholar · View at Scopus
  8. J. Dahlqvist, J. Klar, N. Tiwari et al., “A single-nucleotide deletion in the POMP 5′ UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis,” The American Journal of Human Genetics, vol. 86, no. 4, pp. 596–603, 2010. View at Publisher · View at Google Scholar · View at Scopus