Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review

Yan Jiang; Yang Xue Xiao; Jiao Jiao Xiong; Victor Wei Zhang; Chang Dong; Lei Xu; Fang Liu

doi:10.1186/s13039-023-00670-0

Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review

Mol Cytogenet. 2024 Jan 3;17(1):1. doi: 10.1186/s13039-023-00670-0.

Authors

Yan Jiang¹, Yang Xue Xiao¹, Jiao Jiao Xiong¹, Victor Wei Zhang², Chang Dong², Lei Xu², Fang Liu³

Affiliations

¹ Chongqing Health Center for Women and Children/Women and Children's Hospital of Chongqing Medical University, Chongqing, China.
² AmCare Genomics Lab, Guangzhou, China.
³ Chongqing Health Center for Women and Children/Women and Children's Hospital of Chongqing Medical University, Chongqing, China. [email protected].

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.

Keywords: Intrauterine growth restriction; Maternal UPD6; Prenatal diagnosis; Uniparental disomy.