Article
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.
Clinical genetics - 1 Mar 2009
Zechner U, Kohlschmidt N, Rittner G, Damatova N, Beyer V, Haaf T, Bartsch O
Abstract excerpt
Recently, three reports described deletions and epimutations affecting the imprinted region at chromosome 14q32.2 in individuals with a phenotype typical for maternal uniparental disomy of chromosome 14 [upd(14)mat]. In this study, we describe another patient with upd(14)mat-like phenotype including low birth weight, neonatal feeding problems, muscular hypotonia, motor and developmental delay, small hands and...
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