Prenatal Diagnosis, Ultrasound Findings, and Follow‐Up Evaluation of 16p13.11 Deletion and Duplication Syndromes: Preliminary Assessment of Fetal Genotype–Phenotype
Our study expanded the clinical phenotype spectrum of fetuses with 16p13.11 deletion and duplication and conducted a preliminary evaluation of prenatal ultrasound findings in conjunction with postnatal clinical phenotypes. The primary manifestations observed in fetuses with 16p13.11 deletion and duplication are likely to be cardiovascular malformations and widened lateral ventricles.
Authors
- Jinshuang Song
- Fei Zhou (ORCID: https://orcid.org/0000-0003-1216-2181)
- Weiqiang Liu (ORCID: https://orcid.org/0000-0001-9376-9158)
- Hongyan Niu (ORCID: https://orcid.org/0009-0005-0860-3687)
- Yuanyuan Pei (ORCID: https://orcid.org/0000-0001-5753-8715)
- Fengxiang Wei (ORCID: https://orcid.org/0000-0002-2730-0834)
- Ruchun Huang
- Jinmao Xu (ORCID: https://orcid.org/0009-0001-6368-7757)
- Liping Wu (ORCID: https://orcid.org/0000-0003-2660-3486)
- Xiaojin Luo (ORCID: https://orcid.org/0000-0003-3802-5345)
Institutions
- Shantou University (CN)
- Shenzhen Maternity and Child Healthcare Hospital (CN)
- Shantou University Medical College (CN)
Publication Details
- Journal
- Journal of Clinical Laboratory Analysis
- Published
- 2025-06-19
- DOI
- https://doi.org/10.1002/jcla.70051
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 3.49
Funders
- Shenzhen Science and Technology Innovation Program