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

Scientifica

Volumn 2016, Issue , 2016, Pages

  Halder, Ashutosh ^a   Jain, Manish ^a   Kalsi, Amanpreet Kaur ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 85017486697     PISSN: None     EISSN: 2090908X     Source Type: Journal    
DOI: 10.1155/2016/5826431     Document Type: Article

References (22)

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.
2. K.Devriendt, J.-P. Fryns, G.Mortier, M.-N.Van Thienen, andK. Keymolen, "Theannual incidence ofDiGeorge/velocardiofacial syndrome," Journal of Medical Genetics, vol. 35, no. 9, pp. 789-790, 1998.
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.
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.
5. A. Halder, A. Fauzdar, M. Kabra, and A. Saxena, "Detection of 22q11.2 hemizygous deletion by interphase FISH in a patient with features ofCATCH22 syndrome," Indian Pediatrics, vol. 42, no. 12, pp. 1236-1239, 2005.
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.
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.
8. A.Halder, M. Jain, I. Chaudhary, N. Gupta, andM. 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.
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.
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.
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.
12. M.Manning and L. Hudgins, "Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities," Genetics inMedicine, vol. 12, no. 11, pp. 742-745, 2010.
13. C. Poirsier, J.Besseau-Ayasse, C. Schluth-Bolardet al., "AFrench multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH," European Journal of Human Genetics, 2015.
14. J. Breckpot, B. Thienpont, Y. Arens et al., "Challenges of interpreting copy number variation in syndromic and nonsyndromic congenital heart defects," Cytogenetic and Genome Research, vol. 135, no. 3-4, pp. 251-259, 2011.
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.
16. M.-F. Portnoï, "Microduplication 22q11.2: a new chromosomal syndrome," European Journal ofMedical Genetics, vol. 52, no. 2-3, pp. 88-93, 2009.
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.
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.
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.
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.
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.