Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams–Beuren Syndrome
Our study describes a series of new ultrasound features identified prenatally in fetuses with 7q11.23 microduplications and microdeletions with the intent of expanding the prenatal phenotype associated with copy number variants in this chromosomal region. Additional studies are needed to clearly delineate specific prenatal features associated with these rare genetic entities.
Authors
- Guiyu Lou (ORCID: https://orcid.org/0000-0001-5549-4659)
- Huijuan Peng
- Fengyang Wang (ORCID: https://orcid.org/0009-0005-5680-3800)
- Shixiu Liao (ORCID: https://orcid.org/0000-0003-3126-0027)
- Yanxin Ren
Institutions
- Zhengzhou University (CN)
- Henan Provincial People's Hospital (CN)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2024-09-20
- DOI
- https://doi.org/10.1002/pd.6669
- Primary Topic
- Williams Syndrome Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00