16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations

The large East Asian prenatal cohort is conducive to enhancing genetic counseling for 16p13.11 deletion/duplication syndrome by facilitating a more accurate prediction of fetal prognosis and developmental potential.

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Publication Details

Journal
BMC Pregnancy and Childbirth
Published
2025-12-23
DOI
https://doi.org/10.1186/s12884-025-08467-2
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
0.00

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article

16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations

Peng Huang, S. Zhang, Chaofan Zhou, Yueyun Lan et al.
BMC Pregnancy and Childbirth
Genomic variations and chromosomal abnormalities
article

16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations

Peng Huang, S. Zhang, Chaofan Zhou, Yueyun Lan, Weiliang Lu, Jiao Li, Sheng He, Jiasun Su, Linlin Wang, Shengkai Wei, Wei Li, Xianglian Tang, Yuan Wei, Jingsi Luo, Liang Wang, Fei Chen, Zailong Qin
article en

Abstract

The large East Asian prenatal cohort is conducive to enhancing genetic counseling for 16p13.11 deletion/duplication syndrome by facilitating a more accurate prediction of fetal prognosis and developmental potential.

BMC Pregnancy and ChildbirthVol. 25(1)
Guangxi Maternal and Child Health Hospital (CN), Guangzhou Medical University (CN)
National Natural Science Foundation of China, Guangxi Zhuang Region Health Department
Openalex Percentile: Top 25%
Genomic variations and chromosomal abnormalities
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