Table of Contents Author Guidelines Submit a Manuscript
Scientifica
Volume 2016, Article ID 5826431, 18 pages
http://dx.doi.org/10.1155/2016/5826431
Research Article

SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome

Reproductive Biology, AIIMS, New Delhi 110029, India

Received 28 December 2015; Revised 27 January 2016; Accepted 16 February 2016

Academic Editor: Albert Basson

Copyright © 2016 Ashutosh Halder 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. S. Óskarsdóttir, M. Vujic, and A. Fasth, “Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden,” Archives of Disease in Childhood, vol. 89, no. 2, pp. 148–151, 2004. View at Publisher · View at Google Scholar · View at Scopus
  2. K. Devriendt, J.-P. Fryns, G. Mortier, M.-N. Van Thienen, and K. Keymolen, “The annual incidence of DiGeorge/velocardiofacial syndrome,” Journal of Medical Genetics, vol. 35, no. 9, pp. 789–790, 1998. View at Google Scholar · View at Scopus
  3. C. Cancrini, P. Puliafito, M. C. Digilio et al., “Clinical features and follow-up in patients with 22q11.2 deletion syndrome,” Journal of Pediatrics, vol. 164, no. 6, pp. 1475–e2, 2014. View at Publisher · View at Google Scholar · View at Scopus
  4. A. K. Ryan, J. A. Goodship, D. I. Wilson et al., “Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study,” Journal of Medical Genetics, vol. 34, no. 10, pp. 798–804, 1997. View at Publisher · View at Google Scholar · View at Scopus
  5. A. Halder, A. Fauzdar, M. Kabra, and A. Saxena, “Detection of 22q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH22 syndrome,” Indian Pediatrics, vol. 42, no. 12, pp. 1236–1239, 2005. View at Google Scholar · View at Scopus
  6. A. Halder, M. Jain, M. Kabra, and N. Gupta, “Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases,” Molecular Cytogenetics, vol. 1, no. 1, p. 18, 2008. View at Publisher · View at Google Scholar
  7. A. Halder, M. Jain, I. Chaudhary, and M. Kabra, “Prevalence of 22q11.2 microdeletion in 121 patients with cardiac malformation,” BMC Medical Genetics, vol. 11, article 101, 2010. View at Google Scholar
  8. A. Halder, M. Jain, I. Chaudhary, N. Gupta, and M. Kabra, “Fluorescence in-situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes: an experience with 301 cases,” Indian Journal of Medical Research, vol. 138, pp. 135–142, 2013. View at Google Scholar · View at Scopus
  9. J. D. Weisfeld-Adams, L. Edelmann, I. K. Gadi, and L. Mehta, “Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1,” European Journal of Medical Genetics, vol. 55, no. 12, pp. 732–736, 2012. View at Publisher · View at Google Scholar · View at Scopus
  10. M. Chen, Y.-S. Yang, J.-C. Shih et al., “Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization,” Ultrasound in Obstetrics and Gynecology, vol. 43, no. 4, pp. 396–403, 2014. View at Publisher · View at Google Scholar · View at Scopus
  11. A. Halder, M. Jain, I. Chaudhary, and B. Varma, “Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size,” Molecular Cytogenetics, vol. 5, article 13, 2012. View at Publisher · View at Google Scholar · View at Scopus
  12. M. Manning and L. Hudgins, “Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities,” Genetics in Medicine, vol. 12, no. 11, pp. 742–745, 2010. View at Publisher · View at Google Scholar · View at Scopus
  13. C. Poirsier, J. Besseau-Ayasse, C. Schluth-Bolard et al., “A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH,” European Journal of Human Genetics, 2015. View at Publisher · View at Google Scholar
  14. J. Breckpot, B. Thienpont, Y. Arens et al., “Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects,” Cytogenetic and Genome Research, vol. 135, no. 3-4, pp. 251–259, 2011. View at Publisher · View at Google Scholar · View at Scopus
  15. D. Warburton, M. Ronemus, J. Kline et al., “The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease,” Human Genetics, vol. 133, no. 1, pp. 11–27, 2014. View at Publisher · View at Google Scholar · View at Scopus
  16. M.-F. Portnoï, “Microduplication 22q11.2: a new chromosomal syndrome,” European Journal of Medical Genetics, vol. 52, no. 2-3, pp. 88–93, 2009. View at Publisher · View at Google Scholar · View at Scopus
  17. R. F. M. Rosa, P. R. G. Zen, C. P. Ricachinevsky et al., “22q11.2 duplication and congenital heart defects,” Arquivos Brasileiros de Cardiologia, vol. 93, no. 4, pp. e55–e57, 2009. View at Publisher · View at Google Scholar · View at Scopus
  18. J. Liao, L. Kochilas, S. Nowotschin et al., “Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage,” Human Molecular Genetics, vol. 13, no. 15, pp. 1577–1585, 2004. View at Publisher · View at Google Scholar · View at Scopus
  19. DECIPHER, https://decipher.sanger.ac.uk/search?q=22%3A18844632-19033532+#consented-patients/results.
  20. L. A. Jerome and V. E. Papaioannou, “DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1,” Nature Genetics, vol. 27, no. 3, pp. 286–291, 2001. View at Publisher · View at Google Scholar · View at Scopus
  21. R. Rauch, M. Hofbeck, C. Zweier et al., “Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot,” Journal of Medical Genetics, vol. 47, no. 5, pp. 321–331, 2010. View at Publisher · View at Google Scholar · View at Scopus
  22. 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