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Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.
- Source :
-
Molecular Cytogenetics (17558166) . 1/3/2024, Vol. 17 Issue 1, p1-7. 7p. - Publication Year :
- 2024
-
Abstract
- Background: Uniparental disomy (UPD) is a rare genetic condition leading to potential disease risks. Maternal UPD of chromosome 6 upd(6)mat is exceptionally rare, with limited cases reported. This study reported two new cases of upd(6)mat and reviewed the literature of previous cases. Case presentation: Both cases exhibited intrauterine growth restriction (IUGR), and genetic analysis confirmed upd(6)mat in each case. The literature review identified a total of 19 cases. IUGR and preterm labor were the most common two symptoms observed, and additional anomalies and genetic variations were also reported in some cases. Conclusion: upd(6)mat is potentially associatied with IUGR, but the precise genotype–phenotype relationship remains unclear. The cases with upd(6)mat may present clinical features due to imprinting disorders. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17558166
- Volume :
- 17
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Molecular Cytogenetics (17558166)
- Publication Type :
- Academic Journal
- Accession number :
- 174578246
- Full Text :
- https://doi.org/10.1186/s13039-023-00670-0