DLL1 haploinsufficiency in prenatal brain anomalies: a retrospective analysis of 6q terminal deletions
Fetuses with reduced transverse cerebellar diameter and ventriculomegaly should be evaluated for 6q terminal deletions involving <i>DLL1</i>; combining CNV-seq with reflex WES reduces missed diagnoses and informs counseling.
Authors
- Bingbo Zhou (ORCID: https://orcid.org/0000-0001-8456-9410)
- Xinyuan Tian (ORCID: https://orcid.org/0000-0003-4875-5288)
- Xiaoyu Song (ORCID: https://orcid.org/0000-0002-6583-9400)
- Xiaojuan Lin (ORCID: https://orcid.org/0000-0001-6474-9609)
- Zhiqiang Zhang (ORCID: https://orcid.org/0000-0001-7083-9045)
- Chuan Zhang (ORCID: https://orcid.org/0000-0002-4403-4830)
- Hui Ling (ORCID: https://orcid.org/0000-0003-0873-7878)
- Tingting Ge (ORCID: https://orcid.org/0009-0004-7195-5418)
- Xiaozhuan Wang
Institutions
- Gansu Provincial Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-10-20
- DOI
- https://doi.org/10.3389/fgene.2025.1640775
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China