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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Published:2021-11-23
Issue:
Volume:12
Page:
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ISSN:1664-8021
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Container-title:Frontiers in Genetics
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language:
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Short-container-title:Front. Genet.
Author:
Wang Jian,Zhou Shiyuan,He Fei,Zhang Xuelian,Lu Jianqi,Zhang Jian,Zhang Feng,Xu Xiangmin,Yang Fang,Xiong Fu
Abstract
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.
Funder
Foshan Science and Technology Bureau
National Natural Science Foundation of China
Natural Science Foundation of Guangdong Province
Science and Technology Planning Project of Guangdong Province
Publisher
Frontiers Media SA
Subject
Genetics (clinical),Genetics,Molecular Medicine