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Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review

Purpose: 17q12 copy number variants (CNVs) have variable presentations and incomplete penetrance, challenging prenatal counseling and management. This study aims to investigate the intrauterine phenotype. Methods: We included 48 fetuses diagnosed with 17q12 microdeletion or microduplication by chrom...

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Principais autores: Ruibin Huang, Chunling Ma, Huanyi Chen, Fang Fu, Jin Han, Liyuan Liu, Lushan Li, Shujuan Yan, Jianqin Lu, Hang Zhou, You Wang, Fei Guo, Xiangyi Jing, Fucheng Li, Li Zhen, Dongzhi Li, Ru Li, Can Liao
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2024-09-01
coleção:Heliyon
Assuntos:
17q12 microdeletion
17q12 microduplication
Chromosomal microarray analysis
Prenatal diagnosis
Copy number variants
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2405844024125893
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