Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome
We present a case study highlighting prenatal ultrasound findings in monozygotic twins with chromosome 17q12 deletion syndrome. Fetus A exhibited bilateral fetal pyelectasis and talipes equinovarus, while fetus B showed hyperechogenic kidneys. Despite sharing the same de novo variant, the twins displayed distinct clinical phenotypes, suggesting the presence of non-genetic factors influencing the phenotypic variability of this syndrome. This case represents the first documented instance of prenatally identified identical twins affected by 17q12 deletion syndrome.
Authors
- Tao Yuan (ORCID: https://orcid.org/0000-0003-1966-0829)
- Dan Ma (ORCID: https://orcid.org/0000-0003-3876-0649)
- Lan Zeng (ORCID: https://orcid.org/0000-0001-9030-3678)
- Shuyao Zhu (ORCID: https://orcid.org/0000-0003-2169-8340)
- Zhihui Zhao (ORCID: https://orcid.org/0000-0002-4867-0025)
- Jinfeng Wang (ORCID: https://orcid.org/0000-0002-6687-9420)
- Gen Li (ORCID: https://orcid.org/0000-0002-6862-5547)
- Ai Chen (ORCID: https://orcid.org/0000-0002-5682-2148)
- Biao Tang (ORCID: https://orcid.org/0000-0003-0160-5602)
- Huping Liang
- Xiaocheng Nie
- Guanghuan Pi
Institutions
- Maternal and Child Health Hospital of Sichuan Province (CN)
Publication Details
- Journal
- Journal of Clinical Ultrasound
- Published
- 2024-09-02
- DOI
- https://doi.org/10.1002/jcu.23814
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Chengdu Science and Technology Bureau
- Natural Science Foundation of Sichuan Province