Paternal mosaicism in ASXL3-related bainbridge-ropers syndrome: implications for genetic counseling and prenatal diagnosis
This study establishes parental chimerism as an important genetic mechanism for <i>ASXL3</i>-associated disorders and emphasizes the need for ultrasensitive testing in genetic counseling. The findings redefine genetic risk stratification for BRS and provide a basis for accurate family planning based on high-depth sequencing.
Authors
- Fei Hou (ORCID: https://orcid.org/0000-0001-8681-5355)
- Hua Jin (ORCID: https://orcid.org/0000-0001-5478-4611)
- Bowen Zhao (ORCID: https://orcid.org/0000-0003-3346-5675)
- Fengjuan Ding
Institutions
- Jinan Maternity And Care Hospital (CN)
- Shandong Maternal and Child Health Hospital (CN)
- Shandong First Medical University (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-09-04
- DOI
- https://doi.org/10.3389/fped.2025.1655021
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00