
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.
|
|
|
|



 |
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 |
|
|