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...

Полное описание

Библиографические подробности

Главные авторы:	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
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Elsevier 2024-09-01
Серии:	Heliyon
Предметы:	17q12 microdeletion 17q12 microduplication Chromosomal microarray analysis Prenatal diagnosis Copy number variants
Online-ссылка:	http://www.sciencedirect.com/science/article/pii/S2405844024125893
Метки:	Добавить метку Нет меток, Требуется 1-ая метка записи!