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http://dx.doi.org/10.22742/JIG.2019.1.1.10

First Korean Case of 16p11.2 Duplication Syndrome Diagnosed by Chromosomal Microarray Analysis  

Shim, Ye Jee (Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Keimyung University Dongsan Medical Center)
Park, So Yun (Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Keimyung University Dongsan Medical Center)
Jung, Nani (Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Keimyung University Dongsan Medical Center)
Kang, Seok Jin (Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Keimyung University Dongsan Medical Center)
Kim, Heung Sik (Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Keimyung University Dongsan Medical Center)
Ha, Jung-Sook (Department of Laboratory Medicine, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Keimyung University Dongsan Medical Center)
Publication Information
Journal of Interdisciplinary Genomics / v.1, no.1, 2019 , pp. 10-13 More about this Journal
Abstract
A 10-year and 5 month-old girl with developmental delay, intellectual disability, attention deficit hyperactivity disorder, poor weight gain, and microcephaly was transferred to our pediatric clinic for genetic evaluation. Her height was within the 5-10th percentile, and her weight was under the 3rd percentile. On the social maturity scale, her developmental status was scored as 3 years 9 months for social age, and the social quotient was 35.98. A chromosomal microarray analysis was performed and the microduplication at chromosome 16p was observed: arr[GRCh37] 16p11.2 (29580020_30190029)${\times}3$. Currently, the patient is diagnosed with Grade 2 intellectual disability and is attending a computerized cognitive rehabilitation class twice weekly. In addition, nutritional support and growth follow up are also ensured in the Pediatric Gastrointestinal and Endocrinology clinic.
Keywords
16p11.2 microduplication; 16p11.2 copy number variations; Chromosomal microarray;
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1 Fidler DJ, Bailey JN, Smalley SL. Macrocephaly in autism and other pervasive developmental disorders. Dev Med Child Neurol. 2000;42:737-40.   DOI
2 Gillberg C, de Souza L. Head circumference in autism, Asperger syndrome, and ADHD: a comparative study. Dev Med Child Neurol. 2002;44:296-300.   DOI
3 McNeil TF, Cantor-Graae E, Ismail B. Obstetric complications and congenital malformation in schizophrenia. Brain Res Brain Res Rev. 2000;31:166-78.   DOI
4 Sacker A, Done DJ, Crow TJ. Obstetric complications in children born to parents with schizophrenia: a meta-analysis of case-control studies. Psychol Med. 1996;26:279-87.   DOI
5 Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, et al. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature. 2012;485:363-7.   DOI
6 He H, Tan CK, Downey KM, So AG. A tumor necrosis factor alpha-and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase delta and proliferating cell nuclear antigen. Proc Natl Acad Sci U S A. 2001;98:11979-84.   DOI
7 Niarchou M, Chawner S, Doherty JL, Maillard AM, Jacquemont S, Chung WK, et al. Psychiatric disorders in children with 16p11.2 deletion and duplication. Transl Psychiatry. 2019;9:8.   DOI
8 Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, et al. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet. 2009;52:77-87.   DOI
9 McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet. 2009;41:1223-7.   DOI
10 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;358:667-75.   DOI
11 D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, et al. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016;73:20-30.   DOI
12 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;47:332-41.   DOI
13 Rosenfeld JA, Coppinger J, Bejjani BA, Girirajan S, Eichler EE, Shaffer LG, et al. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord. 2010;2:26-38.   DOI
14 Walsh KM, Bracken MB. Copy number variation in the dosagesensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis. Genet Med. 2011;13:377-84.   DOI