Abstract: Uniparental disomy (UPD) is an uncommon chromosome condition, in which homologous chromosome or fragment are inherited from only one parent. UPD could lead to various clinical phenotypes due to either homozygosity of recessive mutations or aberrant patterns of imprinting. It cannot be effectively detected by conventional karyotyping, NIPT and CNV-sequence. In clinical work, the misdiagnosis could be usual because of the insufficient understanding of UPD or the limited detecting techniques. Here, we searched the UPD-related literatures and comprehensively summarized the pathophysiological mechanisms, clinical detecting techniques as well as the prevention and treatment of UPD.

Key words:  Uniparental disomy, Chromosome aberrations, Genomic imprinting