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...

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Autores principales:	Jian Wang, Shiyuan Zhou, Fei He, Xuelian Zhang, Jianqi Lu, Jian Zhang, Feng Zhang, Xiangmin Xu, Fang Yang, Fu Xiong
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	balanced translocation of chromosomes 4p16.3 wolf-hirschhorn syndrome 4p16.3 microduplication syndrome ID/DD Genetics QH426-470
Acceso en línea:	https://doaj.org/article/0651a8d2643748208ff7ac6b64e50177
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id	oai:doaj.org-article:0651a8d2643748208ff7ac6b64e50177
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spelling	oai:doaj.org-article:0651a8d2643748208ff7ac6b64e501772021-11-30T12:54:45ZFamilial 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 Dysplasia1664-802110.3389/fgene.2021.741607https://doaj.org/article/0651a8d2643748208ff7ac6b64e501772021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.741607/fullhttps://doaj.org/toc/1664-8021Background: 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.Jian WangJian WangShiyuan ZhouFei HeXuelian ZhangJianqi LuJian ZhangFeng ZhangXiangmin XuXiangmin XuFang YangFu XiongFu XiongFu XiongFrontiers Media S.A.articlebalanced translocation of chromosomes4p16.3wolf-hirschhorn syndrome4p16.3 microduplication syndromeID/DDGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	balanced translocation of chromosomes 4p16.3 wolf-hirschhorn syndrome 4p16.3 microduplication syndrome ID/DD Genetics QH426-470
spellingShingle	balanced translocation of chromosomes 4p16.3 wolf-hirschhorn syndrome 4p16.3 microduplication syndrome ID/DD Genetics QH426-470 Jian Wang Jian Wang Shiyuan Zhou Fei He Xuelian Zhang Jianqi Lu Jian Zhang Feng Zhang Xiangmin Xu Xiangmin Xu Fang Yang Fu Xiong Fu Xiong Fu Xiong 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
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	article
author	Jian Wang Jian Wang Shiyuan Zhou Fei He Xuelian Zhang Jianqi Lu Jian Zhang Feng Zhang Xiangmin Xu Xiangmin Xu Fang Yang Fu Xiong Fu Xiong Fu Xiong
author_facet	Jian Wang Jian Wang Shiyuan Zhou Fei He Xuelian Zhang Jianqi Lu Jian Zhang Feng Zhang Xiangmin Xu Xiangmin Xu Fang Yang Fu Xiong Fu Xiong Fu Xiong
author_sort	Jian Wang
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_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_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_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
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/0651a8d2643748208ff7ac6b64e50177
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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

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