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Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome.
- Source :
-
Journal of clinical ultrasound : JCU [J Clin Ultrasound] 2024 Sep 02. Date of Electronic Publication: 2024 Sep 02. - Publication Year :
- 2024
- Publisher :
- Ahead of Print
-
Abstract
- 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.<br /> (© 2024 The Author(s). Journal of Clinical Ultrasound published by Wiley Periodicals LLC.)
Details
- Language :
- English
- ISSN :
- 1097-0096
- Database :
- MEDLINE
- Journal :
- Journal of clinical ultrasound : JCU
- Publication Type :
- Academic Journal
- Accession number :
- 39223774
- Full Text :
- https://doi.org/10.1002/jcu.23814