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

Ye Jee Shim (Department of Pediatrics, Keimyung University School of Medicine, Keimyung University Dongsan Hospital, Keimyung University Dongsan Medical Center, Daegu, Korea)

So Yun Park
Nani Jung
Seok Jin Kang
Heung Sik Kim
Jung-Sook Ha

Shim, Y. J., Park, S. Y., Jung, N., Kang, S. J., Kim, H. S., & Ha, J. (2019). . 유전의학융합학술지, 1(1), 10-13, https://doi.org/10.22742/JIG.2019.1.1.10

복사

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)×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

투고일Submission Date: 2019-03-30

수정일Revised Date: 2019-04-05

게재확정일Accepted Date: 2019-04-30

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논문 상세

Vol.1 No.1

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

Abstract

유전의학융합학술지