Duplication of chromosome 16p13.11-p12.3 with different expressions in the same family

1American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Arlington, VA, USA: American Psychiatric Association, 2013.American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 5th ed Arlington, VA, USA American Psychiatric Association 201310.1176/appi.books.9780890425596Search in Google Scholar

2Vulto-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): 16791687.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 1679168710.1002/humu.2244224038936Search in Google Scholar

3Itsara 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.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 16110.1016/j.ajhg.2008.12.014266801119166990Search in Google Scholar

4Hannes 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.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 23210.1136/jmg.2007.055202265875218550696Search in Google Scholar

5Shinawi 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.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 34110.1136/jmg.2009.073015315856619914906Search in Google Scholar

6Nagamani 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.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 28610.1038/ejhg.2010.184306198821150890Search in Google Scholar

7Goods 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.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 105610.1007/s10803-012-1644-3422290322965298Search in Google Scholar

8Okuno T, Kondelis N. Evaluation of dithiothreitol (DTT) for inactivation of IgM antibodies. J Clin Pathol. 1978; 31(12): 1152-1155.Okuno T Kondelis N Evaluation of dithiothreitol (DTT) for inactivation of IgM antibodies J Clin Pathol 1978 31 12 1152 115510.1136/jcp.31.12.1152114552234632Search in Google Scholar

9Loureiro 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.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 129Search in Google Scholar

10Liu JYW, Kasperavičiūtė D, Martinian L, Thom M, Sisodiya SM. Neuropathology of 16p13.11 deletion in epilepsy. PLoS One. 2012; 7(4): e34813.Liu JYW Kasperavičiūtė D Martinian L Thom M Sisodiya SM Neuropathology of 16p13.11 deletion in epilepsy PLoS One 2012 7 4 e3481310.1371/journal.pone.0034813332772122523559Search in Google Scholar

11Ramalingam 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.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 54410.1038/jhg.2011.4221614007Search in Google Scholar

12Ullmann 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.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 68210.1002/humu.2054617480035Search in Google Scholar

13Tropeano 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.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 e6136510.1371/journal.pone.0061365363019823637818Search in Google Scholar

14Quintela 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.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 132210.1002/ajmg.a.3690925847113Search in Google Scholar

15Pinto 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.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 59610.1016/j.braindev.2015.12.00626754451Search in Google Scholar

16Srivastava 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.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 48310.1002/ana.2425125131622Search in Google Scholar

17Weiss 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.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 67510.1056/NEJMoa07597418184952Search in Google Scholar

18Sahoo 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.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 88010.1097/GIM.0b013e3182217a0621792059Search in Google Scholar