{Reference Type}: Journal Article
{Title}: Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.
{Author}: Jiang Y;Xiao YX;Xiong JJ;Zhang VW;Dong C;Xu L;Liu F;
{Journal}: Mol Cytogenet
{Volume}: 17
{Issue}: 1
{Year}: 2024 Jan 3
{Factor}: 1.904
{DOI}: 10.1186/s13039-023-00670-0
{Abstract}: <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.