AUTHOR=Wang Jian , Zhou Shiyuan , He Fei , Zhang Xuelian , Lu Jianqi , Zhang Jian , Zhang Feng , Xu Xiangmin , Yang Fang , Xiong Fu 

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

JOURNAL=Frontiers in Genetics

VOLUME=12

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.741607

DOI=10.3389/fgene.2021.741607

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> 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.</p><p><bold>Conclusion:</bold> Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.</p>