Work

3q29 Microduplication syndrome: a new family case of phenotype heterogeneity

Year: 2022

Type: preprint

Abstract: Here, we describe a family case carrier with 3q29 microduplication, a 1.56Mb and 1.68 Mb duplicate region, that was identified by CNV-seq. Different from the common clinical traits of previously reported cases, this family of individuals shows an apparently normal phenotype.

DOI: 10.22541/au.165771211.12582203/v1

Authors: Jin-hua Wu, Tian-shu Zhou, Man Wang, Yu-jie Jin, Rui Li, Yan Li, Sheng-long He, Juan-juan Zhang, Chao-yun Wang, Ping-an Xiong, Chun-lei Deng, Xiao-hua Tian, Lei Zhao, Chong Guo, Zhi-jun Zhang

Institutions: Hubei University of Medicine, Taihe Hospital

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4285085213

Cites: 6

Cited by:

Related to: 10