16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up

Abstract Objectives 16p13.11 microdeletion/microduplication are rare genetic diseases with incomplete penetrance, most of which have been reported in adults and children, with ultrasound phenotyping in fetuses rarely described. Here, we have analyzed prenatal ultrasound phenotypic characteristics as...

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Bibliographic Details
Main Authors: Meiying Cai, Yanting Que, Xuemei Chen, Yuqing Chen, Bin Liang, Hailong Huang, Liangpu Xu, Na Lin
Format: Article
Language:English
Published: BMC 2022-12-01
Series:BMC Pregnancy and Childbirth
Subjects:
16p13.11
Nuchal translucency
SNP-array
Phenotypic characteristics
microdeletion/microduplication
Online Access:https://doi.org/10.1186/s12884-022-05267-w

Internet

https://doi.org/10.1186/s12884-022-05267-w

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