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

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

doi:10.3389/fgene.2021.741607

Frontiers in Genetics (Nov 2021)

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

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

Affiliations

Jian Wang: Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, China
Jian Wang: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China
Shiyuan Zhou: Henan Provincial Research Institute for Population and Family Planning Zhengzhou China, Zhengzhou, China
Fei He: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China
Xuelian Zhang: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China
Jianqi Lu: Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China
Jian Zhang: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China
Feng Zhang: Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, China
Xiangmin Xu: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China
Xiangmin Xu: Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, China
Fang Yang: Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, China
Fu Xiong: Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, China
Fu Xiong: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China
Fu Xiong: Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, China

DOI: https://doi.org/10.3389/fgene.2021.741607
Journal volume & issue: Vol. 12

Abstract

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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.

Published in Frontiers in Genetics

ISSN: 1664-8021 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Science: Biology (General): Genetics
Website: http://journal.frontiersin.org/journal/genetics

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