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A Nine-Month-Old Boy With Isoducebtric Chromosome 15:A Case Report

Authors
 Doug Ho Park  ;  Seonggyu Lim  ;  Eun Sook Park  ;  Eun Geol Sim 
Citation
 Annals of Rehabilitation Medicine, Vol.37(2) : 291-294, 2013 
Journal Title
Annals of Rehabilitation Medicine
ISSN
 2234-0645 
Issue Date
2013
Keywords
Chromosomal abnormality ; Developmental delay disorders ; Tetrasomy 15q
Abstract
Isodicentric chromosome 15 [idic(15)] is a rare chromosomal abnormality that occurs due to inverted duplication of chromosome 15q. It is associated with many clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure. Delayed development is a common problem referred to pediatric rehabilitation clinics. A 9-month-old boy with delayed development was referred to our clinic for assessment and treatment. On chromosomal analysis, he was diagnosed as idic(15) syndrome with 47,XY,+idic(15)(q12) on karyotyping. Herein we describe his clinical manifestations and provide a brief review of the related literature.
Files in This Item:
T201302312.pdf Download
DOI
10.5535/arm.2013.37.2.291
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Park, Eun Sook(박은숙) ORCID logo https://orcid.org/0000-0002-9144-3063
Sim, Eun Geol(심은결)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/87250
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