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MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report

Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of...

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Autores principales: Shim, Jae Sun, Min, Kyunghoon, Lee, Seung Hoon, Park, Ji Eun, Park, Sang Hee, Kim, MinYoung, Shim, Sung Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Academy of Rehabilitation Medicine 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496521/
https://www.ncbi.nlm.nih.gov/pubmed/26161356
http://dx.doi.org/10.5535/arm.2015.39.3.482
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author Shim, Jae Sun
Min, Kyunghoon
Lee, Seung Hoon
Park, Ji Eun
Park, Sang Hee
Kim, MinYoung
Shim, Sung Han
author_facet Shim, Jae Sun
Min, Kyunghoon
Lee, Seung Hoon
Park, Ji Eun
Park, Sang Hee
Kim, MinYoung
Shim, Sung Han
author_sort Shim, Jae Sun
collection PubMed
description Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome. We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports. The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.
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spelling pubmed-44965212015-07-09 MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report Shim, Jae Sun Min, Kyunghoon Lee, Seung Hoon Park, Ji Eun Park, Sang Hee Kim, MinYoung Shim, Sung Han Ann Rehabil Med Case Report Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome. We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports. The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality. Korean Academy of Rehabilitation Medicine 2015-06 2015-06-30 /pmc/articles/PMC4496521/ /pubmed/26161356 http://dx.doi.org/10.5535/arm.2015.39.3.482 Text en Copyright © 2015 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
Shim, Jae Sun
Min, Kyunghoon
Lee, Seung Hoon
Park, Ji Eun
Park, Sang Hee
Kim, MinYoung
Shim, Sung Han
MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
title MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
title_full MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
title_fullStr MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
title_full_unstemmed MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
title_short MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
title_sort mef2c-related 5q14.3 microdeletion syndrome detected by array cgh: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496521/
https://www.ncbi.nlm.nih.gov/pubmed/26161356
http://dx.doi.org/10.5535/arm.2015.39.3.482
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