A 9-YEAR-OLD-GIRL WITH PHELAN McDERMID SYNDROME, WHO HAD BEEN DIAGNOSED WITH AN AUTISM SPECTRUM DISORDER
Görker I, Gürkan H, Demir Ulusal S, Atlı E, Ikbal Atlı E
*Corresponding Author: Işık Görker, Child and Adolescent Psychiatry Department, Trakya University, Faculty of Medicine, Balkan Yerleskesi, 22030, Edirne, Turkey. Tel: +90-532-355-9277. Fax: +90-284-435-7652. E-mail: isikgorker@gmail.com
page: 85

REFERENCES

1. P helan K, McDermid HE. The 22q13.3 deletion syndrome (Phelan-McDermid Syndrome). Mol Syndromol. 2012; 2(3-5): 186-201. 2. Betancur C, Buxbaum JD. SHANK3 haploinsufficiency: A “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders. Mol Autism. 2013; 4(1): 17. doi: 10.1186/2040-2392-4-18. 3. Costales JL, Kolevzon A. Phelan-McDermid Syndrome and SHANK3: Implications for treatment. Neuro-therapeutics. 2015; 12(3): 620-630. 4. P ersico AM, Napolioni V. Autism genetics. Behav Brain Res. 2013; 15; 95-112. doi: 10.1016/j.bbr.2013. 06.012. 5. Bozdagi O, Tavassoli T, Buxbaum JD. Insulin-like growth factor-1 rescues synaptic and motor deficits in a Mouse model of autism and developmental delay. Mol Autism. 2013; 4(1): 9. doi: 10.1186/2040-2392- 4-9. 6. Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism. 2013; 4(1): 18. doi: 10.1186/2040-2392-4-18. 7. Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S, et al. Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Eur J Hum Genet. 2009; 17(1): 37-43. 8. Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, et al. Duplication of 8p23.2: A benign cytogenetic variant? Am J Med Genet. 2002; 111(3): 285-288. 9. Barber JC, Maloney V, Hollox EJ, Stuke-Sontheimer A, du Bois G, Daumiller E, et al. Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level. Eur J Hum Genet. 2005; 13(10): 1131-1136. 10. Kennedy SJ, Teebi AS, Adatia I, Teshima I. Inherited duplication, dup(8)(p23.1p23.1) pat, in a father and daughter with congenital heart defects. Am J Med Genet. 2001; 104(1): 79-80.



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