Work

Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis

Year: 2024

Type: article

Abstract: Introduction: Silver-Russell syndrome (SRS) is an imprinting disorder characterized by intrauterine and postnatal growth retardation. The pathogenic alterations and phenotypes are heterogeneous. Methods: Here, we present a rare pedigree of duplications with different methylation patterns in 11p15.5, which caused SRS or a normal phenotype across three generations. Results: Duplications of maternal IC2 (copy number of 3) with enhanced methylation (methylation index of 0.62) resulted in typical SRS. Conclusion: The result added to the complexity of the molecular genetics of SRS.

Source: Frontiers in Genetics

DOI: 10.3389/fgene.2024.1465521

Authors: Shurong Hong, Hua Wei, Xueyi Zhuang, Weirong Huang, Yu Zhang

Institutions: Fujian Medical University, Zhangzhou Municipal Hospital of Fujian Province

Language: English

Topic: Genetic Syndromes and Imprinting

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,295