Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14

摘要: Uniparental disomy (UPD) for chromosome 14 is associated with well-recognized phenotypes, depending on the parent of origin. Studies in mouse models and human patients have implicated involvement distal region long arm distinctive phenotypes. This supported by identification an imprinting cluster at 14q32, encompassing differentially methylated regions (DMRs), IG-DMR MEG3-DMR, as well maternally expressed genes GTL2, DIO3, RTL1 paternally DLK1, RTL1as, MEG8. Here we report a preterm female infant segmental paternal UPD14 (upd(14)pat) 14q32-14q32.33, which resulted thoracic deformity secondary to rib abnormalities ("coat-hanger" sign), polyhydramnios, other congenital characteristically described cases complete upd(14)pat. Microsatellite investigation demonstrated UPD markers D14S250 D14S1010, approximately 3.5 Mb 14q involving cluster. case provided insight into etiology phenotypic effects upd(14)pat, prompting methylation analysis GTL2 promoter DMR between DLK1. We compare physical findings seen this those causes abnormal consistently result certain distinct clinical features, regardless cytogenetic molecular etiology.