Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

Clinical features of maternal uniparenta

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster

✍ Karin Buiting; Deniz Kanber; José I. Martín-Subero; Wolfgang Lieb; Paulien Terha 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 290 KB

## Communicated by Nancy B. Spinner Maternal uniparental disomy 14 [upd( 14)mat] is associated with a recognizable phenotype that includes preand postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is re