Ontology highlight
ABSTRACT:
SUBMITTER: Yakoreva M
PROVIDER: S-EPMC6117659 | biostudies-other | 2018 Jul
REPOSITORIES: biostudies-other
Yakoreva Maria M Kahre Tiina T Pajusalu Sander S Ilisson Piret P Žilina Olga O Tillmann Vallo V Reimand Tiia T Õunap Katrin K
Molecular syndromology 20180518 4
Temple syndrome (TS14) is a relatively recently discovered imprinting disorder caused by abnormal expression of genes at the locus 14q32. The underlying cause of this syndrome is maternal uniparental disomy of chromosome 14 (UPD(14)mat). Trisomy of chromosome 14 is one of the autosomal trisomies; in humans, it is only compatible with live birth in mosaic form. Although UPD(14)mat and mosaic trisomy 14 can arise from the same cellular mechanism, a combination of both has been currently reported o ...[more]