https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1544565/full
Frontiers | Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome...
Uniparental disomy (UPD) occurs when both homologous chromosomes are inherited from a single parent. To date, the UPD of all autosomes and the X chromosome h...
https://pubmed.ncbi.nlm.nih.gov/34200361/
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2)...