1. Feldkamp M, Carey J, Byrne Jl, Krikov S, Botto LD. Etiology and clinical presentation of birth defects: population based study. BMJ. 2017;357:j2249. [
DOI:10.1136/bmj.j2249] [
PMID] [
]
2. World Health Organization. Congenital anomalies [Internet]. Geneva: World Health Organization; 2017 [Cited 2020 Dec 1]. Available from: https://www.who.int/newsroom/factsheets/detail/congenitalanomalies.
3. March of Dimes. March of dimes global report on birth defects [Internet]. New York: March of Dimes; 2006 [Cited 2020 Dec 1]. Available from: https://www.marchofdimes.org/mission/march-of-dimes-global-report-on-birth-defects.aspx#
4. Turnpenny P, Ellard S. Emery's elements of medical genetics. 16th Edition. Elsevier; 2017.
5. 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):680-5. [
DOI:10.1097/GIM.0b013e3182217a3a] [
PMID]
6. Mohammadzadeh A, Akbaroghli S, Aghaei-Moghadam E, Mahdieh N, Shervin Badv R, Jamali P, et al. Investigation of chromosomal abnormalities and microdeletion/ microduplication(s) in fifty Iranian patients with multiple congenital anomalies. Cell J. 2019;21(3):337-49.
7. McGowan-Jordan J, Simons A, Schmid M. ISCN: an international system for human cytogenomic nomenclature (2016). Basel: Karger. 2016.
8. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (DSM-5®). 5th Edition. Washington: American Psychiatric Pub; 2013. [
DOI:10.1176/appi.books.9780890425596]
9. 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(6):589-99. [
DOI:10.1016/j.ejpn.2013.04.010] [
PMID]
10. Srour M, Mazer B, Shevell M. Analysis of clinical features predicting etiologic yield in the assessment of global developmental delay. Pediatrics. 2006;118(1):139-45. [
DOI:10.1542/peds.2005-2702] [
PMID]
11. Teixeira WG, Marques FK, Menezes Freire MC. Retrospective karyotype study in mentally retarded patients. Rev Assoc Med Bras (1999). 2016;62(3):262-8. [
DOI:10.1590/1806-9282.62.03.262] [
PMID]
12. Sadek A, Mohamed M. Yield of karyotyping in children with developmental delay and/or dysmorphic features in Sohag University Hospital, Upper Egypt. Egypt J Med Human Genet. 2018;19(3):253-9. [
DOI:10.1016/j.ejmhg.2017.12.007]
13. Miller D, 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):749-64. [
DOI:10.1016/j.ajhg.2010.04.006] [
PMID] [
]
14. Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A. 2006;140(19):2063-74. [
DOI:10.1002/ajmg.a.31416] [
PMID]
15. Ahmed MN, DeLong GR, Qumsiyeh MB. Postnatal developmental delay and chromosomal abnormalities. Clin Pediatr. 2000;39(4):233-5. [
DOI:10.1177/000992280003900407] [
PMID]
16. Graham SM, Selikowitz M. Chromosome testing in children with developmental delay in whom the aetiology is not evident clinically. J Paediatr Child Health. 1993;29(5):360-2. [
DOI:10.1111/j.1440-1754.1993.tb00535.x] [
PMID]
17. Battaglia A, Bianchini E, Carey JC. Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry. Am J Med Genet. 1999;82(1):60-6.
https://doi.org/10.1002/(SICI)1096-8628(19990101)82:1<60::AID-AJMG12>3.0.CO;2-4 [
DOI:10.1002/(SICI)1096-8628(19990101)82:13.0.CO;2-4]
18. Shevell M, Majnemer A, Rosenbaum P, Abrahamowicz M. Etiologic yield of subspecialists' evaluation of young children with global developmental delay. J Pediatr. 2000;136(5):593-8. [
DOI:10.1067/mpd.2000.104817] [
PMID]
19. Behjati F, Ghasemi Firouzabadi S, Kahrizi K, Kariminejad R, Bagherizadeh I, Ansari J, et al. Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages. Arch Med Sci. 2011;7(2):321-5. [
DOI:10.5114/aoms.2011.22085] [
PMID] [
]
20. Dutta S, Shaw J, Siha S, Mukhopadhyay K. Chromosomal abnormalities associated with mental retardation in female subjects. Indian J Hum Genet. 2009;15(1):28-31. [
DOI:10.4103/0971-6866.50867] [
PMID] [
]
21. Santos C, Boy R, Santos J, Silva M, Pimentel M. Chromosomal investigations in patients with mental retardation and/or congenital malformations. Genet Mol Biol. 2000;23(4):703-7. [
DOI:10.1590/S1415-47572000000400002]
22. Vaghasia KK, Shah ND, Shah PS, Bhatt VM, Shah SP, Rao MV. Karyotypic analysis of chromosomal polymorphism in relation to reproductive failure. Int J Pharm Pharm Sci. 2017;9(4):140-3. [
DOI:10.22159/ijpps.2017v9i4.15787]
23. Jiao X, Qin C, Li J, Qin Y, Gao X, Zhang B, et al. Cytogenetic analysis of 531 Chinese women with premature ovarian failure. Hum Reprod. 2012;27(7):2201-7. [
DOI:10.1093/humrep/des104] [
PMID]
24. Machado Rosa RF, Papandreus Dibi R, Vieira Toscani N, Leiria Moura da Silva L, Gazzola Zen PR, Graziadio C, et al. Primary amenorrhea and XY karyotype: identifying patients in risk. Rev Bras Ginecol Obstet. 2008;30(11):566-72. [Portuguese] [
DOI:10.1590/S0100-72032008001100007] [
PMID]
25. Geckinli BB, Toksoy G, Sayar C, Soylemez MA, Yesil G, Aydın H, et al. Prevalence of X-aneuploidies, X-structural abnormalities and 46, XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency. Eur J Obstet Gynecol Reprod Biol. 2014;182:211-5. [
DOI:10.1016/j.ejogrb.2014.09.033] [
PMID]
26. Berglund A, Johannsen T, Stochholm K, Viuff M, Fedder J, Main K, et al. Incidence, prevalence, diagnostic delay, and clinical presentation of female 46,XY disorders of sex development. J Clin Endocrinol Metab. 2016;101(12):4532-40. [
DOI:10.1210/jc.2016-2248] [
PMID]