Referanslar

• 1. Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Quality Standards Subcommittee of the American Academy of Neurology; Practice Committee of the Child Neurology Society. 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;60:367-80. google scholar
• 2. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 5th edn. Arlington, VA: American Psychiatric Publishing, 2013. google scholar
• 3. American Association of Intellectual and Developmental Disabilities. Definition of Intellectual Disability. Access date: 26 March 2022. Available from: https://www.aaidd.org/intellectual-disability/definition google scholar
• 4. Moeschler JB, Shevell M, American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006; 117:2304. google scholar
• 5. Maulik PK, Mascarenhas MN, Mathers CD, Dua T, Saxena S. Prevalence of intellectual disability: a meta-analysis of population-based studies. Res Dev Disabil 2011; 32:419. google scholar
• 6. Augustyn M, Voigt RG, Patterson MC. Autism spectrum disorder: Terminology, epidemiology, and pathogenesis. In: UpToDate, Post, TM (Ed), UpToDate, Waltham, MA. Access date 04 March 2022. Available from: https://www.uptodate.com google scholar
• 7. 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;77:1629-35. google scholar
• 8. 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;86:749-64. google scholar
• 9. 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;13:680-5. google scholar
• 10. Wayhelova M, Smetana J, Vallova V, Hladilkova E, Filkova H, Hanakova M, et al. The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay. BMC Med Genomics 2019;12:111. google scholar
• 11. 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;3:691-9. google scholar
• 12. Misra S, Peters G, Barnes E, Ardern-Holmes S, Webster R, Troedson C, et al. Yield of comparative genomic hybridization microarray in pediatric neurology practice. Neurol Genet 2019;5:e367. google scholar
• 13. Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, et al. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol 2013;17:589-99. google scholar
• 14. Ronzoni L, Grassi FS, Pezzani L, Tucci A, Baccarin M, Esposito S, et al. 7p22.1 microduplication syndrome: Refinement of the critical region. Eur J Med Genet 2017; 60:114-7. google scholar
• 15. Atack E, Fairtlough H, Smith K, Balasubramanian M. A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay. Mol Syndromol 2014;5:245-50. google scholar
• 16. Vergult S, Dauber A, Delle Chiaie B, Van Oudenhove E, Simon M, Rihani A, et al. 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations. Eur J Hum Genet 2012; 20:534-9. google scholar
• 17. Chung WK, Roberts TP, Sherr EH, Snyder LG, Spiro JE. 16p11.2 deletion syndrome. Curr Opin Genet Dev 2021;68:49-56. google scholar
• 18. Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, et al. Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy. Am J Med Genet A 2019;179:1543-46. google scholar
• 19. Jordan VK, Zaveri HP, Scott DA. 1p36 deletion syndrome: an update. Appl Clin Genet 2015;8:189-200. google scholar
• 20. Sim JC, White SM, Lockhart PJ. ARID1B-mediated disorders: Mutations and possible mechanisms. Intractable Rare Dis Res 2015;4:17-23. google scholar
• 21. Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, et al. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet 2017;101:503-515. google scholar
• 22. Theisen A, Rosenfeld JA, Farrell SA, Harris CJ, Wetzel HH, Torchia BA, et al. aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy. Am J Med Genet A 2009;149A:914-918. google scholar
• 23. Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, et al. Central 22q11.2 deletions. Am J Med Genet A 2014;164A:2707-23. google scholar

Atıflar