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KMID : 0361420130370020291
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Journal of Korean Academy of Rehabilitation Medicine
2013 Volume.37 No. 2 p.291 ~ p.294
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A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report
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Park Doug-Ho
Lim Seong-Gyu
Park Eun-Sook
Sim Eun-Geol
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Abstract
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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.
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KEYWORD
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Chromosomal abnormality, Developmental delay disorders, Tetrasomy 15q
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