%0 Journal Article
%T Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.
%A Jiang Y
%A Xiao YX
%A Xiong JJ
%A Zhang VW
%A Dong C
%A Xu L
%A Liu F
%J Mol Cytogenet
%V 17
%N 1
%D 2024 Jan 3
%M 38173004
%F 1.904
%R 10.1186/s13039-023-00670-0
%X <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>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.