title: Mosaic tetraploidy in a liveborn infant with features of the DiGeorge anomaly.
abstract: We report on a liveborn male infant with mosaic tetraploidy who presented with multiple congenital anomalies including features of the DiGeorge anomaly (type I truncus arteriosus with other cardiovascular malformations, thymic hypoplasia, hypocalcemia). No structural chromosome aberrations, namely of chromosome 22, were detected. These findings contribute to the variability of symptoms of the polyploid phenotype. Additionally, the cytogenetic studies in our case emphasize the necessity of investigating fibroblasts in order to evaluate the relevant proportion of aberrant cells in mosaicism.
authors.affiliation: Institut für Humangenetik, Universität des Saarlandes, Homburg, F.R.G.
authors.forename: B
authors.initials: B
authors.lastname: Wullich
authors.forename: W
authors.initials: W
authors.lastname: Henn
authors.forename: E
authors.initials: E
authors.lastname: Groterath
authors.forename: A
authors.initials: A
authors.lastname: Ermis
authors.forename: S
authors.initials: S
authors.lastname: Fuchs
authors.forename: M
authors.initials: M
authors.lastname: Zankl
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011123:Polyploidy