Article
Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
American journal of medical genetics. Part A - 1 Dec 2015
Corsello Giovanni, Salzano Emanuela, Vecchio Davide, Antona Vincenzo, Grasso Marina, Malacarne Michela, Carella Massimo, Palumbo Pietro, Piro Ettore, Giuffrè Mario
Abstract excerpt
The human chromosome 14q32 carries a cluster of imprinted genes which include the paternally expressed genes (PEGs) DLK1 and RTL1, as well as the maternally expressed genes (MEGs) MEG3, RTL1as, and MEG8. PEGs and MEGs expression at the 14q32.2-imprinted region are regulated by two differentially methylated regions (DMRs): the IG-DMR and the MEG3-DMR, which are respectively methylated on the paternal and...
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