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

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...

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Detalles Bibliográficos
Autores principales: Park, Doug Ho, Lim, Seonggyu, Park, Eun Sook, Sim, Eun Geol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Academy of Rehabilitation Medicine 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660494/
https://www.ncbi.nlm.nih.gov/pubmed/23705128
http://dx.doi.org/10.5535/arm.2013.37.2.291
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author Park, Doug Ho
Lim, Seonggyu
Park, Eun Sook
Sim, Eun Geol
author_facet Park, Doug Ho
Lim, Seonggyu
Park, Eun Sook
Sim, Eun Geol
author_sort Park, Doug Ho
collection PubMed
description 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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spelling pubmed-36604942013-05-23 A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report Park, Doug Ho Lim, Seonggyu Park, Eun Sook Sim, Eun Geol Ann Rehabil Med Case Report 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. Korean Academy of Rehabilitation Medicine 2013-04 2013-04-30 /pmc/articles/PMC3660494/ /pubmed/23705128 http://dx.doi.org/10.5535/arm.2013.37.2.291 Text en Copyright © 2013 by Korean Academy of Rehabilitation Medicine http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Park, Doug Ho
Lim, Seonggyu
Park, Eun Sook
Sim, Eun Geol
A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report
title A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report
title_full A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report
title_fullStr A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report
title_full_unstemmed A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report
title_short A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report
title_sort nine-month-old boy with isodicentric chromosome 15: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660494/
https://www.ncbi.nlm.nih.gov/pubmed/23705128
http://dx.doi.org/10.5535/arm.2013.37.2.291
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