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.
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
