Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature
To our knowledge, this is the largest study to find that fetuses with recurrent 1q21.1 microdeletions were closely associated with increased NT, CHD, IUGR, and CAKUT. In addition, ours is the first study to report that cerebral ventriculomegaly might be associated with recurrent 1q21.1 microdeletions. More comprehensive studies are needed for a better understanding of the prenatal phenotype-genotype relationship of the recurrent 1q21.1 microdeletion syndrome in future.
Authors
- Chunling Ma
- Tingying Lei (ORCID: https://orcid.org/0000-0003-3423-0755)
- Zhen Li (ORCID: https://orcid.org/0000-0002-9754-6389)
- Lei Liu (ORCID: https://orcid.org/0000-0003-4558-4903)
- Lina Zhang (ORCID: https://orcid.org/0000-0001-8645-2910)
- Fei Guo (ORCID: https://orcid.org/0000-0001-8346-0798)
- Dong‐Zhi Li (ORCID: https://orcid.org/0000-0002-4583-6800)
Institutions
- Guangzhou Women and Children Medical Center (CN)
- Southern Medical University (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-08-29
- DOI
- https://doi.org/10.3389/fgene.2024.1448341
- Citations
- 3
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.65