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Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia
Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been in...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8650131/ https://www.ncbi.nlm.nih.gov/pubmed/34887900 http://dx.doi.org/10.3389/fgene.2021.741607 |
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author | Wang, Jian Zhou, Shiyuan He, Fei Zhang, Xuelian Lu, Jianqi Zhang, Jian Zhang, Feng Xu, Xiangmin Yang, Fang Xiong, Fu |
author_facet | Wang, Jian Zhou, Shiyuan He, Fei Zhang, Xuelian Lu, Jianqi Zhang, Jian Zhang, Feng Xu, Xiangmin Yang, Fang Xiong, Fu |
author_sort | Wang, Jian |
collection | PubMed |
description | Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported. Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies. |
format | Online Article Text |
id | pubmed-8650131 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-86501312021-12-08 Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia Wang, Jian Zhou, Shiyuan He, Fei Zhang, Xuelian Lu, Jianqi Zhang, Jian Zhang, Feng Xu, Xiangmin Yang, Fang Xiong, Fu Front Genet Genetics Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported. Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies. Frontiers Media S.A. 2021-11-23 /pmc/articles/PMC8650131/ /pubmed/34887900 http://dx.doi.org/10.3389/fgene.2021.741607 Text en Copyright © 2021 Wang, Zhou, He, Zhang, Lu, Zhang, Zhang, Xu, Yang and Xiong. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Wang, Jian Zhou, Shiyuan He, Fei Zhang, Xuelian Lu, Jianqi Zhang, Jian Zhang, Feng Xu, Xiangmin Yang, Fang Xiong, Fu Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia |
title | Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia |
title_full | Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia |
title_fullStr | Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia |
title_full_unstemmed | Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia |
title_short | Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia |
title_sort | familial translocation t(2;4) (q37.3;p16.3), resulting in a partial trisomy of 2q (or 4p) and a partial monosomy of 4p (or 2q), causes dysplasia |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8650131/ https://www.ncbi.nlm.nih.gov/pubmed/34887900 http://dx.doi.org/10.3389/fgene.2021.741607 |
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