ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS IN CHILDREN WITH DEVELOPMENTAL DELAY/INTELLECTUAL DISABILITY
Türkyılmaz A, Geckinli BB, Tekin E, Ates EA, Yarali O, Cebi AH, Arman A
*Corresponding Author: Ayberk Türkyılmaz, M.D., Assistant Professor, Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Farabi Street, 61080 Ortahisar, Trabzon, Turkey. Tel: +90-505-812-03-34. Fax: +90-462-377-51-06. E-mail: ayberkturkyilmaz@gmail.com
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REFERENCES

Choo YY, Agarwal P, How CH, Yeleswarapu SP. Developmental delay: Identification and management at primary care level. Singapore Med J. 2019; 60(3): 119-123. 2. Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011; 77(17): 1629-635. 3. Kaufman L, Ayub M, Vincent JB. The genetic basis of non-syndromic intellectual disability: A review. J Neu-rodev Disord. 2010; 2(4): 182-209. 4. Lo-Castro A, Curatolo P. Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link? Brain Dev. 2014; 36(3): 185-193. 5. Moeschler JB, Shevell M; Committee on Genetics. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014; 134(3): e903-e918. 6. Miclea D, Peca L, Cuzmici Z, Pop IV. Genetic testing in patients with global developmental delay/intellectual disabilities. A review. Clujul Med. 2015; 88(3): 288-292. 7. Wang R, Lei T, Fu F, Li R, Jing X, Yang X, et al. Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China. Pediatr Neonatol. 2019; 60(1): 35-42. 8. Lee C, Iafrate AJ, Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet. 2007; 39(7 Suppl) :S48- S54. 9. Weise A, Mrasek K, Klein E, Mulatinho M, Llerena JC Jr, Hardekopf D, et al. Microdeletion and microduplication syndromes. J Histochem Cytochem. 2012; 60(5): 346-358. 10. Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC. The genetics of microdeletion and microduplication syndromes: an update. Annu Rev Genomics Hum Genet. 2014; 15: 215-244. 11. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010; 86(5): 749-764. 12. McGowan-Jordan J, Simons A, Schmid M. An International System for Human Cytogenetic Nomenclature. Basel, Switzerland: Karger, 2016. 13. Kearney HM, Thorland EC, Brown KK, Quintero- Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011; 13(7): 680-685. 14. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A. 2006; 140(24): 2757-2767. 15. Aston E, Whitby H, Maxwell T, Glaus N, Cowley B, Lowry D, et al. Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform. J Med Genet. 2008; 45(5): 268-274. 16. Lee KY, Shin E. Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay. Korean J Pediatr. 2017; 60(9): 282-289. 17. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, et al. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet. 2010; 42(3): 203-209. 18. Conrad B, Antonarakis SE. Gene duplication: A drive for phenotypic diversity and cause of human disease. Annu Rev Genomics Hum Genet. 2007; 8: 17-35. 19. Rice AM, McLysaght A. Dosage sensitivity is a major determinant of human copy number variant pathogenicity. Nat Commun. 2017; 8: 14366. 20. Stankiewicz P, Pursley AN, Cheung SW. Challenges in clinical interpretation of microduplications detected by array CGH analysis. Am J Med Genet A. 2010; 152A(5): 1089-1100. 21. Zahir FR, Langlois S, Gall K, Eydoux P, Marra MA, Friedman JM. A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies. Am J Med Genet A. 2009; 149A(6): 1257-1262. 22. Kemeny S, Pebrel-Richard C, Eymard-Pierre E, Gay- Bellile M, Gouas L, Goumy C, et al. Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay. Eur J Med Genet. 2014; 57(10): 552-557. 23. Speevak MD, Farrell SA. Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair. Am J Med Genet B Neuropsychiatr Genet. 2011; 156B(4): 484-489. 24. Cianci P, Agosti M, Modena P, Selicorni A. De novo Xq21.31-q21.32 duplication in intellectual disability: A new report. Clin Dysmorphol. 2019; 28(2): 98-100. 25. Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, et al. An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet. 2009; 52(5): 353-357. 26. Rinaldi R, De Bernardo C, Assumma M, Grammatico B, Buffone E, Poscente M, et al. Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype. Am J Med Genet A. 2003; 118A(2): 122-126. 27. van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet. 2009; 46(8): 511-523. 28. Türkyılmaz A, Yaralı O. A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features. Balkan J Med Genet. 2020; 23(1): 103-108. 29. D’Arrigo S, Gavazzi F, Alfei E, Zuffardi O, Montomoli C, Corso B, et al. The diagnostic yield of array comparative genomic hybridization is high regardless of severity of intellectual disability/developmental delay in children. J Child Neurol. 2016; 31(6): 691- 699. 30. Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2003; 60(3): 367-380.



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