Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Information of 1q21.1 Deletion and Duplication Syndromes: A Single-Center Case Series
This study suggests that fetuses with prenatal 1q21.1 deletions may be associated with malformations of the urinary system, whereas those with 1q21.1 duplications are likely associated with cardiac malformations. For fetuses diagnosed with 1q21.1 deletions or duplications who present with a normal phenotype prenatally, it is essential to conduct close monitoring of their neurodevelopmental trajectory postnatally.
Authors
- Fengxiang Wei (ORCID: https://orcid.org/0000-0001-7559-2504)
- Weiqiang Liu (ORCID: https://orcid.org/0000-0002-2429-8791)
- Liu Li (ORCID: https://orcid.org/0000-0003-2376-8162)
- Yu-Wen Tang (ORCID: https://orcid.org/0000-0001-8923-8784)
- Yuanyuan Pei (ORCID: https://orcid.org/0000-0001-9548-7269)
- Xiaohang Chen
- 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
- Shenzhen Maternity and Child Healthcare Hospital (CN)
Publication Details
- Journal
- Fetal Diagnosis and Therapy
- Published
- 2025-11-10
- DOI
- https://doi.org/10.1159/000549222
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00