DUPLICATION OF CHROMOSOME 16p13.11-p12.3 WITH DIFFERENT EXPRESSIONS IN THE SAME FAMILY
Pop-Jordanova N1,*, Zorcec T2, Sukarova-Angelovska E2, 3
*Corresponding Author: Professor Nadica Pop-Jardonica, Department of Medicine, Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Bul. Krste Misirkov 2, 1000 Skopje, Republic of North Macedonia. Tel.: +389-2-32-35-400. Fax: +389-2-32-35-423. E-mail: popjordanova.nadica@gmail.com
page: 89

REFERENCES

1. American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Arlington, VA, USA: American Psychiatric Association, 2013. 2. Vulto-van Silfhout AT, Hehir-Kwa JY, van Bon BWM, Schuurs Hoeijmakers JHM, Meader S, et al. Clinical significance of de novo and inherited copy number variation. Hum Mutat. 2013; 34(12): 1679- 1687. 3. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet. 2009; 84(2): 148-161. 4. Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, et al. Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet. 2009; 46(4): 223-232. 5. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010; 47(5): 332-341. 6. Nagamani SCS, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, et al. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011; 19(3): 280-286. 7. Goods KS, Ishijima E, Chang Ya C, Kasari C. Preschool based JASPER intervention in minimally verbal children with autism: Pilot RCT. J Autism Dev Disord. 2013; 43(5): 1050-1056. 8. Okuno T, Kondelis N. Evaluation of dithiothreitol (DTT) for inactivation of IgM antibodies. J Clin Pathol. 1978; 31(12): 1152-1155. 9. Loureiro S, Almeida J, Café C, Conceição I, Mouga S, Beleza A, et al. Copy number variations in chromosome 16p13.11-The neurodevelopmental clinical spectrum. Curr Pediatr Res. 2017; 21(1): 116-129. 10. Liu JYW, Kasperavičiūtė D, Martinian L, Thom M, Sisodiya SM. Neuropathology of 16p13.11 deletion in epilepsy. PLoS One. 2012; 7(4): e34813. 11. Ramalingam A, Zhou XG, Fiedler SD, Brawner SJ, Joyce JM, Liu H-Y, et al. 16p13.11 duplication is a risk factor for wide spectrum of neuropsychiatric disorders. J Hum Genet. 2011; 56(7): 541-544. 12. Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, Rosenberg C, et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat. 2007; 28(7): 674-682. 13. Tropeano M, Ahn JW, Dobson RJB, Breen G, Rucker J, Dixit A, et al. Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. PLoS One. 2013; 8(4): e61365. 14. Quintela I, Barros F, Lago-Leston R, Castro-Gago M, Carracedo A, Eiris J. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features. Am J Med Genet A. 2015; 167(6): 1315-1322. 15. Pinto AM, Bianciardi L, Mencarelli MA, Imperatore V, Di Marco C, Furini S, et al. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation. Brain Dev. 2016; 38(6): 590-596. 16. Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, et al. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014; 76(4): 473-483. 17. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008; 358(7): 667-675. 18. Sahoo T, Theisen A, Rosenfeld JA, Lamb AN, Ravnan JB, Schultz RA, et al. Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genet Med. 2011; 13(10): 868-880.



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