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Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability
BACKGROUND: Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including. intellectual disability and autism. CASE PRESENTATION: We report on a patient with intellectual disability and a 763.3 Kb duplication on 1q43...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472087/ https://www.ncbi.nlm.nih.gov/pubmed/31019551 http://dx.doi.org/10.1186/s13039-019-0427-3 |
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author | Cheng, Xiaofei Yang, Qifang Liu, Jun Ye, Juan Xiao, Huiying Zhang, Gaimei Pan, Yuanyuan Li, Xia Hao, Ruifeng Li, Yinfeng |
author_facet | Cheng, Xiaofei Yang, Qifang Liu, Jun Ye, Juan Xiao, Huiying Zhang, Gaimei Pan, Yuanyuan Li, Xia Hao, Ruifeng Li, Yinfeng |
author_sort | Cheng, Xiaofei |
collection | PubMed |
description | BACKGROUND: Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including. intellectual disability and autism. CASE PRESENTATION: We report on a patient with intellectual disability and a 763.3 Kb duplication on 1q43 that includes only CHRM3, which was detected by next generation sequencing (NGS). The patient presented with intellectual disability, developmental delay, autistic behavior, limited or no speech, social withdrawal, self-injurious, feeding difficulties, strabismus, short stature, hand anomalie, and no seizures, anxiety, or mood swings, and clinodactyly. CONCLUSIONS: We propose that CHRM3 is the critical gene responsible for the common characteristics in the cases with 1q43 duplication and deletion. |
format | Online Article Text |
id | pubmed-6472087 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-64720872019-04-24 Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability Cheng, Xiaofei Yang, Qifang Liu, Jun Ye, Juan Xiao, Huiying Zhang, Gaimei Pan, Yuanyuan Li, Xia Hao, Ruifeng Li, Yinfeng Mol Cytogenet Case Report BACKGROUND: Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including. intellectual disability and autism. CASE PRESENTATION: We report on a patient with intellectual disability and a 763.3 Kb duplication on 1q43 that includes only CHRM3, which was detected by next generation sequencing (NGS). The patient presented with intellectual disability, developmental delay, autistic behavior, limited or no speech, social withdrawal, self-injurious, feeding difficulties, strabismus, short stature, hand anomalie, and no seizures, anxiety, or mood swings, and clinodactyly. CONCLUSIONS: We propose that CHRM3 is the critical gene responsible for the common characteristics in the cases with 1q43 duplication and deletion. BioMed Central 2019-04-17 /pmc/articles/PMC6472087/ /pubmed/31019551 http://dx.doi.org/10.1186/s13039-019-0427-3 Text en © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Cheng, Xiaofei Yang, Qifang Liu, Jun Ye, Juan Xiao, Huiying Zhang, Gaimei Pan, Yuanyuan Li, Xia Hao, Ruifeng Li, Yinfeng Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability |
title | Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability |
title_full | Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability |
title_fullStr | Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability |
title_full_unstemmed | Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability |
title_short | Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability |
title_sort | constitutional 763.3 kb chromosome 1q43 duplication encompassing only chrm3 gene identified by next generation sequencing (ngs) in a child with intellectual disability |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472087/ https://www.ncbi.nlm.nih.gov/pubmed/31019551 http://dx.doi.org/10.1186/s13039-019-0427-3 |
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